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Entry
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- *613597 - 4-HYDROXY-2-OXOGLUTARATE ALDOLASE 1; HOGA1
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- OMIM
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<p>
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<span class="h4">*613597</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613597">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000241935;t=ENST00000370646" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=112817" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=613597" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000241935;t=ENST00000370646" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001134670,NM_138413" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_138413" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=613597" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=12584&isoform_id=12584_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/HOGA1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/15080314,28278550,31543060,34784750,40643261,74750531,119570297,119570298,119570299,158259903,197927274,2419915040" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q86XE5" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=112817" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000241935;t=ENST00000370646" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=HOGA1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=HOGA1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+112817" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/HOGA1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:112817" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/112817" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr10&hgg_gene=ENST00000370646.9&hgg_start=97584389&hgg_end=97612802&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:25155" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/hoga1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613597[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613597[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/HOGA1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000241935" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=HOGA1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=HOGA1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=HOGA1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HOGA1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA165548441" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:25155" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1914682" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/HOGA1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1914682" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/112817/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=112817" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-2242" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:112817" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=HOGA1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 734990008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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613597
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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4-HYDROXY-2-OXOGLUTARATE ALDOLASE 1; HOGA1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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DIHYDRODIPICOLINATE SYNTHASE-LIKE, MITOCHONDRIAL; DHDPSL
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HOGA1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HOGA1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/10/450?start=-3&limit=10&highlight=450">10q24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:97584389-97612802&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">10:97,584,389-97,612,802</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/10/450?start=-3&limit=10&highlight=450">
|
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10q24.2
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Hyperoxaluria, primary, type III
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613616"> 613616 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613597" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613597" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By searching for genes in a region of chromosome 10 linked to primary hyperoxaluria type III (HP3; <a href="/entry/613616">613616</a>), followed by PCR of genomic DNA, <a href="#1" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> cloned DHDPSL. They noted that, despite the designation 'mitochondrial dihydrodipicolinate synthase-like,' DHDPSL shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. Instead, <a href="#1" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> speculated that DHDPSL encodes mitochondrial 4-hydroxy-2-oxoglutarate aldolase (<a href="https://enzyme.expasy.org/EC/4.1.3.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 4.1.3.16</a>), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing the products glyoxylate and pyruvate. <a href="#1" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> stated that DHDPSL is predominantly expressed in liver and kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 15 patients from 9 unrelated families with primary hyperoxaluria mapping to chromosome 10 (HP3; <a href="/entry/613616">613616</a>), in whom mutations in the AGXT (<a href="/entry/604285">604285</a>) and GRHPR (<a href="/entry/604296">604296</a>) had been excluded, <a href="#1" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> analyzed the candidate gene DHDPSL and identified homozygosity or compound heterozygosity for 6 different mutations (<a href="#0001">613597.0001</a>-<a href="#0006">613597.0006</a>). The unaffected parents were all heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 27-month-old Chinese boy with primary hyperoxaluria in whom mutations in the AGXT (<a href="/entry/604285">604285</a>) and GRHPR (<a href="/entry/604296">604296</a>) genes had been excluded, <a href="#4" class="mim-tip-reference" title="Wang, X., Zhao, X., Wang, X., Yao, J., Zhang, F., Lang, Y., Tuffery-Giraud, S., Bottillo, I., Shao, L. <strong>Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3.</strong> Am. J. Nephrol. 42: 78-84, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26340091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26340091</a>] [<a href="https://doi.org/10.1159/000439232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26340091">Wang et al. (2015)</a> identified compound heterozygous mutations in the HOGA1 gene (<a href="#0007">613597.0007</a> and <a href="#0008">613597.0008</a>). The mutations segregated with the phenotype in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26340091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated boys, born to consanguineous Tunisian parents, with primary hyperoxaluria, who did not have mutations in the AGXT or GRHPR gene, <a href="#3" class="mim-tip-reference" title="M'dimegh, S., Aquaviva-bourdain, C., Omezzine, A., Souche, G., M'barek, I., Abidi, K., Gargah, T., Abroug, S., Bouslama, A. <strong>HOGA1 gene mutations of primary hyperoxaluria type 3 in Tunisian patients.</strong> J. Clin. Lab. Anal. 31: e22053, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27561601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27561601</a>] [<a href="https://doi.org/10.1002/jcla.22053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27561601">M'dimegh et al. (2017)</a> identified mutations in the HOGA1 gene: 2 boys were homozygous for a P190L and a G287V mutation (<a href="#0002">613597.0002</a>), respectively, and the other boy was heterozygous for the G287V mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27561601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509360 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509360;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397509360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397509360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of 4 unrelated Ashkenazi Jewish families with calcium oxalate nephrolithiasis (HP3; <a href="/entry/613616">613616</a>), <a href="#1" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> identified homozygosity for a 3-bp deletion (944delAGG) in exon 7 of the DHDPSL gene, resulting in deletion of glu315 (glu315del). The unaffected parents were all heterozygous for the deletion, which was not found in 216 chromosomes from healthy unrelated Ashkenazi Jewish individuals or in 226 chromosomes from European American individuals. The glu315del mutation was detected in compound heterozygosity with another DHDPSL mutation in affected members from 3 additional HP3 families (see <a href="#0002">613597.0002</a>-<a href="#0004">613597.0004</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs138207257 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs138207257;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs138207257?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs138207257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs138207257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 5 affected members of an Ashkenazi Jewish family with primary hyperoxaluria (HP3; <a href="/entry/613616">613616</a>), <a href="#1" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> identified compound heterozygosity for an 860G-T transversion in the DHDPSL gene, resulting in a gly287-to-val (G287V) substitution, and glu315del (<a href="#0001">613597.0001</a>). The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 216 chromosomes from healthy unrelated Ashkenazi Jewish individuals or in 226 chromosomes from European American individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606762 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606762;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267606762?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000048 OR RCV001059730 OR RCV003415591" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000048, RCV001059730, RCV003415591" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000048...</a>
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<p>In 2 affected members of a European American family with calcium oxalate nephrolithiasis (HP3; <a href="/entry/613616">613616</a>), <a href="#1" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> identified compound heterozygosity for a 289C-T transition in the DHDPSL gene, resulting in an arg97-to-cys (R97C) substitution, and glu315del (<a href="#0001">613597.0001</a>). The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 226 chromosomes from European American individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 HYPEROXALURIA, PRIMARY, TYPE III</strong>
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HOGA1, IVS, G-T, +4
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2041105506 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2041105506;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2041105506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2041105506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000049" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000049" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000049</a>
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<p>In a 24-year-old woman from a European American family with calcium oxalate nephrolithiasis (HP3; <a href="/entry/613616">613616</a>), <a href="#1" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> identified compound heterozygosity for an intronic G-to-T transversion (701+4G-T) in the DHDPSL gene, predicted to result in insertion of 17 amino acid residues, and glu315del (<a href="#0001">613597.0001</a>). The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 226 chromosomes from European American individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 HYPEROXALURIA, PRIMARY, TYPE III</strong>
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HOGA1, ARG70PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606763 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606763;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267606763?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000050 OR RCV001387338" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000050, RCV001387338" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000050...</a>
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<span class="mim-text-font">
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<p>In a 15-year-old boy from a European American family with calcium oxalate nephrolithiasis (HP3; <a href="/entry/613616">613616</a>), <a href="#1" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> identified compound heterozygosity for a 209G-C transversion in the DHDPSL gene, resulting in an arg70-to-pro (R70P) substitution, and the 704+4G-T splice site mutation (<a href="#0004">613597.0004</a>). The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 226 chromosomes from European American individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 HYPEROXALURIA, PRIMARY, TYPE III</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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HOGA1, CYS257GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606764 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606764;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267606764?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000051 OR RCV000994489" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000051, RCV000994489" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000051...</a>
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</span>
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<span class="mim-text-font">
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<p>In a 12-year-old boy from a European American family with calcium oxalate nephrolithiasis (HP3; <a href="/entry/613616">613616</a>), <a href="#1" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> identified homozygosity for a 769T-G transversion in the DHDPSL gene, resulting in a cys257-to-gly (C257G) substitution. The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 226 chromosomes from European American individuals. His brother, who had only transient hyperoxaluria and had never formed a kidney stone, did not carry the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 HYPEROXALURIA, PRIMARY, TYPE III</strong>
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</span>
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</h4>
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HOGA1, c.834_834+1GG-TT
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1564760008 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1564760008;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1564760008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1564760008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000766272 OR RCV000807342" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000766272, RCV000807342" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000766272...</a>
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<p>In a 27-month-old Chinese boy with primary hyperoxaluria type III (HP3; <a href="/entry/613616">613616</a>), <a href="#4" class="mim-tip-reference" title="Wang, X., Zhao, X., Wang, X., Yao, J., Zhang, F., Lang, Y., Tuffery-Giraud, S., Bottillo, I., Shao, L. <strong>Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3.</strong> Am. J. Nephrol. 42: 78-84, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26340091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26340091</a>] [<a href="https://doi.org/10.1159/000439232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26340091">Wang et al. (2015)</a> identified compound heterozygous mutations in the HOGA1 gene: a 2-bp substitution at the last nucleotide of exon 6 (c.834_834+1GG-TT) and a c.834G-A transition (<a href="#0008">613597.0008</a>) at the last nucleotide of exon 6. A minigene assay based on the pSPL3 exon trapping vector suggested that both of these mutations affected splicing. The first one resulted in complete skipping of exon 6, resulting in a frameshift from codon 235 and premature termination at position 268 in exon 7. The second led to expression of 2 transcripts of which the majority were missing exon 6. The first mutation was inherited from his mother, and the second was inherited from his father. Direct sequencing failed to identify these mutations in 100 unrelated healthy subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26340091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 HYPEROXALURIA, PRIMARY, TYPE III</strong>
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<div style="float: left;">
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HOGA1, c.834G-A
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs770050262 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770050262;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs770050262?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs770050262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs770050262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000186493 OR RCV000791689" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186493, RCV000791689" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186493...</a>
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</span>
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<span class="mim-text-font">
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<p>For discussion of the c.834G-A transition in the HOGA1 gene that was found in compound heterozygous state in a Chinese boy with primary hyperoxaluria type III (HP3; <a href="/entry/613616">613616</a>) by <a href="#4" class="mim-tip-reference" title="Wang, X., Zhao, X., Wang, X., Yao, J., Zhang, F., Lang, Y., Tuffery-Giraud, S., Bottillo, I., Shao, L. <strong>Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3.</strong> Am. J. Nephrol. 42: 78-84, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26340091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26340091</a>] [<a href="https://doi.org/10.1159/000439232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26340091">Wang et al. (2015)</a>, see <a href="#0007">613597.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26340091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Belostotsky2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y.
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<strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong>
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Am. J. Hum. Genet. 87: 392-399, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.07.023" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Hartz2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/12/2010.
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</p>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="M'dimegh2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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M'dimegh, S., Aquaviva-bourdain, C., Omezzine, A., Souche, G., M'barek, I., Abidi, K., Gargah, T., Abroug, S., Bouslama, A.
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<strong>HOGA1 gene mutations of primary hyperoxaluria type 3 in Tunisian patients.</strong>
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J. Clin. Lab. Anal. 31: e22053, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27561601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27561601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27561601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/jcla.22053" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Wang2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, X., Zhao, X., Wang, X., Yao, J., Zhang, F., Lang, Y., Tuffery-Giraud, S., Bottillo, I., Shao, L.
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<strong>Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3.</strong>
|
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Am. J. Nephrol. 42: 78-84, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26340091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26340091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26340091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000439232" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 04/09/2019
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/26/2010
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 10/12/2010
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</span>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/11/2019
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 04/10/2019<br>carol : 04/09/2019<br>carol : 11/21/2012<br>wwang : 10/28/2010<br>terry : 10/26/2010<br>mgross : 10/12/2010
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 613597
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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4-HYDROXY-2-OXOGLUTARATE ALDOLASE 1; HOGA1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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DIHYDRODIPICOLINATE SYNTHASE-LIKE, MITOCHONDRIAL; DHDPSL
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HOGA1</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 734990008;
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</span>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 10q24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 10:97,584,389-97,612,802 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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10q24.2
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<td>
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<span class="mim-font">
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Hyperoxaluria, primary, type III
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</span>
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</td>
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<td>
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<span class="mim-font">
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613616
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tbody>
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</table>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By searching for genes in a region of chromosome 10 linked to primary hyperoxaluria type III (HP3; 613616), followed by PCR of genomic DNA, Belostotsky et al. (2010) cloned DHDPSL. They noted that, despite the designation 'mitochondrial dihydrodipicolinate synthase-like,' DHDPSL shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. Instead, Belostotsky et al. (2010) speculated that DHDPSL encodes mitochondrial 4-hydroxy-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing the products glyoxylate and pyruvate. Belostotsky et al. (2010) stated that DHDPSL is predominantly expressed in liver and kidney. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hartz (2010) mapped the DHDPSL gene to chromosome 10q24.2 based on an alignment of the DHDPSL sequence (GenBank BC011916) with the genomic sequence (GRCh37).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 15 patients from 9 unrelated families with primary hyperoxaluria mapping to chromosome 10 (HP3; 613616), in whom mutations in the AGXT (604285) and GRHPR (604296) had been excluded, Belostotsky et al. (2010) analyzed the candidate gene DHDPSL and identified homozygosity or compound heterozygosity for 6 different mutations (613597.0001-613597.0006). The unaffected parents were all heterozygous for 1 of the mutations. </p><p>In a 27-month-old Chinese boy with primary hyperoxaluria in whom mutations in the AGXT (604285) and GRHPR (604296) genes had been excluded, Wang et al. (2015) identified compound heterozygous mutations in the HOGA1 gene (613597.0007 and 613597.0008). The mutations segregated with the phenotype in the family. </p><p>In 3 unrelated boys, born to consanguineous Tunisian parents, with primary hyperoxaluria, who did not have mutations in the AGXT or GRHPR gene, M'dimegh et al. (2017) identified mutations in the HOGA1 gene: 2 boys were homozygous for a P190L and a G287V mutation (613597.0002), respectively, and the other boy was heterozygous for the G287V mutation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 HYPEROXALURIA, PRIMARY, TYPE III</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HOGA1, 3-BP DEL, 944AGG
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<br />
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SNP: rs397509360,
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ClinVar: RCV000000046, RCV000815800, RCV003415590
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of 4 unrelated Ashkenazi Jewish families with calcium oxalate nephrolithiasis (HP3; 613616), Belostotsky et al. (2010) identified homozygosity for a 3-bp deletion (944delAGG) in exon 7 of the DHDPSL gene, resulting in deletion of glu315 (glu315del). The unaffected parents were all heterozygous for the deletion, which was not found in 216 chromosomes from healthy unrelated Ashkenazi Jewish individuals or in 226 chromosomes from European American individuals. The glu315del mutation was detected in compound heterozygosity with another DHDPSL mutation in affected members from 3 additional HP3 families (see 613597.0002-613597.0004, respectively). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 HYPEROXALURIA, PRIMARY, TYPE III</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HOGA1, GLY287VAL
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<br />
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SNP: rs138207257,
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gnomAD: rs138207257,
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ClinVar: RCV000000047, RCV000798240
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 5 affected members of an Ashkenazi Jewish family with primary hyperoxaluria (HP3; 613616), Belostotsky et al. (2010) identified compound heterozygosity for an 860G-T transversion in the DHDPSL gene, resulting in a gly287-to-val (G287V) substitution, and glu315del (613597.0001). The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 216 chromosomes from healthy unrelated Ashkenazi Jewish individuals or in 226 chromosomes from European American individuals. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 HYPEROXALURIA, PRIMARY, TYPE III</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HOGA1, ARG97CYS
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<br />
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SNP: rs267606762,
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gnomAD: rs267606762,
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ClinVar: RCV000000048, RCV001059730, RCV003415591
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 affected members of a European American family with calcium oxalate nephrolithiasis (HP3; 613616), Belostotsky et al. (2010) identified compound heterozygosity for a 289C-T transition in the DHDPSL gene, resulting in an arg97-to-cys (R97C) substitution, and glu315del (613597.0001). The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 226 chromosomes from European American individuals. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 HYPEROXALURIA, PRIMARY, TYPE III</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HOGA1, IVS, G-T, +4
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<br />
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SNP: rs2041105506,
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ClinVar: RCV000000049
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a 24-year-old woman from a European American family with calcium oxalate nephrolithiasis (HP3; 613616), Belostotsky et al. (2010) identified compound heterozygosity for an intronic G-to-T transversion (701+4G-T) in the DHDPSL gene, predicted to result in insertion of 17 amino acid residues, and glu315del (613597.0001). The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 226 chromosomes from European American individuals. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HYPEROXALURIA, PRIMARY, TYPE III</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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HOGA1, ARG70PRO
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<br />
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SNP: rs267606763,
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gnomAD: rs267606763,
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|
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ClinVar: RCV000000050, RCV001387338
|
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|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 15-year-old boy from a European American family with calcium oxalate nephrolithiasis (HP3; 613616), Belostotsky et al. (2010) identified compound heterozygosity for a 209G-C transversion in the DHDPSL gene, resulting in an arg70-to-pro (R70P) substitution, and the 704+4G-T splice site mutation (613597.0004). The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 226 chromosomes from European American individuals. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
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</div>
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HYPEROXALURIA, PRIMARY, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HOGA1, CYS257GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606764,
|
|
|
|
|
|
gnomAD: rs267606764,
|
|
|
|
|
|
ClinVar: RCV000000051, RCV000994489
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old boy from a European American family with calcium oxalate nephrolithiasis (HP3; 613616), Belostotsky et al. (2010) identified homozygosity for a 769T-G transversion in the DHDPSL gene, resulting in a cys257-to-gly (C257G) substitution. The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 226 chromosomes from European American individuals. His brother, who had only transient hyperoxaluria and had never formed a kidney stone, did not carry the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HYPEROXALURIA, PRIMARY, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HOGA1, c.834_834+1GG-TT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1564760008,
|
|
|
|
|
|
|
|
ClinVar: RCV000766272, RCV000807342
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 27-month-old Chinese boy with primary hyperoxaluria type III (HP3; 613616), Wang et al. (2015) identified compound heterozygous mutations in the HOGA1 gene: a 2-bp substitution at the last nucleotide of exon 6 (c.834_834+1GG-TT) and a c.834G-A transition (613597.0008) at the last nucleotide of exon 6. A minigene assay based on the pSPL3 exon trapping vector suggested that both of these mutations affected splicing. The first one resulted in complete skipping of exon 6, resulting in a frameshift from codon 235 and premature termination at position 268 in exon 7. The second led to expression of 2 transcripts of which the majority were missing exon 6. The first mutation was inherited from his mother, and the second was inherited from his father. Direct sequencing failed to identify these mutations in 100 unrelated healthy subjects. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HYPEROXALURIA, PRIMARY, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HOGA1, c.834G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs770050262,
|
|
|
|
|
|
gnomAD: rs770050262,
|
|
|
|
|
|
ClinVar: RCV000186493, RCV000791689
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.834G-A transition in the HOGA1 gene that was found in compound heterozygous state in a Chinese boy with primary hyperoxaluria type III (HP3; 613616) by Wang et al. (2015), see 613597.0007. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y.
|
|
<strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong>
|
|
Am. J. Hum. Genet. 87: 392-399, 2010.
|
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|
[PubMed: 20797690]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.07.023]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Hartz, P. A.
|
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<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 10/12/2010.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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M'dimegh, S., Aquaviva-bourdain, C., Omezzine, A., Souche, G., M'barek, I., Abidi, K., Gargah, T., Abroug, S., Bouslama, A.
|
|
<strong>HOGA1 gene mutations of primary hyperoxaluria type 3 in Tunisian patients.</strong>
|
|
J. Clin. Lab. Anal. 31: e22053, 2017. Note: Electronic Article.
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[PubMed: 27561601]
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[Full Text: https://doi.org/10.1002/jcla.22053]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wang, X., Zhao, X., Wang, X., Yao, J., Zhang, F., Lang, Y., Tuffery-Giraud, S., Bottillo, I., Shao, L.
|
|
<strong>Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3.</strong>
|
|
Am. J. Nephrol. 42: 78-84, 2015.
|
|
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|
[PubMed: 26340091]
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[Full Text: https://doi.org/10.1159/000439232]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 04/09/2019<br>Marla J. F. O'Neill - updated : 10/26/2010
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 10/12/2010
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</span>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/11/2019<br>carol : 04/10/2019<br>carol : 04/09/2019<br>carol : 11/21/2012<br>wwang : 10/28/2010<br>terry : 10/26/2010<br>mgross : 10/12/2010
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