3086 lines
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- *601734 - SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 2; SMARCC2
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601734</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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="#description">Description</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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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601734">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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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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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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="mimGenome">
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<span class="panel-title">
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<span class="small">
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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=ENSG00000139613;t=ENST00000550164" 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=6601" 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=601734" 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="panel-title">
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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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</span>
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</span>
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</div>
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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=ENSG00000139613;t=ENST00000550164" 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_001130420,NM_001330288,NM_003075,NM_139067,XM_005269102,XM_005269103,XM_005269104,XM_017019884,XM_017019885,XM_017019886,XM_047429447,XM_047429448,XM_047429449" 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_001330288" 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=601734" 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=03437&isoform_id=03437_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/SMARCC2" 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/1549241,14290577,15341763,20072796,21237805,21237808,32880191,52545797,57012959,62087592,62088166,119617312,119617313,119617314,194363725,194375878,530400733,530400735,530400737,1034581332,1034581334,1034581336,1057867268,2217290751,2217290754,2217290756,2462534002,2462534004,2462534006,2462534008,2462534010,2462534012,2462534014,2462534016,2462534018" 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/Q8TAQ2" 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>
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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=6601" 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=ENSG00000139613;t=ENST00000550164" 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=SMARCC2" 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=SMARCC2" 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+6601" 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/SMARCC2" 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:6601" 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/6601" 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=chr12&hgg_gene=ENST00000550164.6&hgg_start=56162359&hgg_end=56189483&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>
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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="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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</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:11105" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601734[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=601734[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/SMARCC2/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/ENSG00000139613" 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=SMARCC2" 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=SMARCC2" 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=SMARCC2" 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=SMARCC2&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/PA35955" 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:11105" 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://flybase.org/reports/FBgn0002783.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1915344" 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/SMARCC2#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:1915344" 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/6601/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=6601" 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://wormbase.org/db/gene/gene?name=WBGene00004203;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-100728-1" 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:6601" 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=SMARCC2&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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</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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601734
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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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SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 2; SMARCC2
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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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MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 170<br />
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BRG1-ASSOCIATED FACTOR, 170-KD; BAF170<br />
|
|
CHROMATIN REMODELING COMPLEX BAF170 SUBUNIT<br />
|
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SWI3, YEAST, HOMOLOG OF
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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=SMARCC2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SMARCC2</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/12/501?start=-3&limit=10&highlight=501">12q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:56162359-56189483&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'})">12:56,162,359-56,189,483</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/12/501?start=-3&limit=10&highlight=501">
|
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12q13.2
|
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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">
|
|
Coffin-Siris syndrome 8
|
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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/618362"> 618362 </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 dominant">AD</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;">
|
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<li><a href="/graph/linear/601734" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/601734" 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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<p>The SMARCC2 gene encodes BAF170, the 170-kD subunit of the SWI/SNF chromatin remodeling complex (<a href="#6" class="mim-tip-reference" title="Wang, W., Xue, Y., Zhou, S., Kuo, A., Cairns, B. R., Crabtree, G. R. <strong>Diversity and specialization of mammalian SWI/SNF complexes.</strong> Genes Dev. 10: 2117-2130, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8804307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8804307</a>] [<a href="https://doi.org/10.1101/gad.10.17.2117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8804307">Wang et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8804307" 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>See also BAF60a (<a href="/entry/601735">601735</a>), -b (<a href="/entry/601736">601736</a>), and -c (<a href="/entry/601737">601737</a>), other subunits in this complex.</p>
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<p>Chromatin is actively remodeled during development. Chromatin remodeling of certain genes appears to precede their transcriptional activation. In yeast, the multisubunit SWI/SNF complex is thought to be responsible for chromatin remodeling. <a href="#6" class="mim-tip-reference" title="Wang, W., Xue, Y., Zhou, S., Kuo, A., Cairns, B. R., Crabtree, G. R. <strong>Diversity and specialization of mammalian SWI/SNF complexes.</strong> Genes Dev. 10: 2117-2130, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8804307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8804307</a>] [<a href="https://doi.org/10.1101/gad.10.17.2117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8804307">Wang et al. (1996)</a> isolated an analogous SWI/SNF complex from the human YT cell line. They found that the resultant complexes are composed of 9 to 12 polypeptides, which they termed BAFs (for BRG1-associated factors). The BAF170 subunit encodes a polypeptide of 1,213 amino acids and is homologous both to the yeast SWI3 gene and to BAF155 (<a href="/entry/601732">601732</a>). SWI3, BAF155, and BAF170 all contain a predicted leucine zipper region (a dimerization motif for a variety of transcription factors) and a myb-like tryptophan-repeat domain. Western blot analysis and EST database analysis revealed that BAF170 is expressed in many tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8804307" 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>By immunohistochemical analysis of adult mouse hippocampus, <a href="#5" class="mim-tip-reference" title="Tuoc, T., Dere, E., Radyushkin, K., Pham, L., Nguyen, H., Tonchev, A. B., Sun, G., Ronnenberg, A., Shi, Y., Staiger, J. F., Ehrenreich, H., Stoykova, A. <strong>Ablation of BAF170 in developing and postnatal dentate gyrus affects neural stem cell proliferation, differentiation, and learning.</strong> Molec. Neurobiol. 54: 4618-4635, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27392482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27392482</a>] [<a href="https://doi.org/10.1007/s12035-016-9948-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27392482">Tuoc et al. (2017)</a> found that Baf170 was expressed in cell types involved in the sequential steps of adult neurogenesis, including radial glial-like (RGL) cells, mature astrocytes, immature neurons, and mature neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27392482" 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>By PCR of a somatic cell hybrid panel and radiation hybrid analysis, <a href="#3" class="mim-tip-reference" title="Ring, H. Z., Vameghi-Meyers, V., Wang, W., Crabtree, G. R., Francke, U. <strong>Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome.</strong> Genomics 51: 140-143, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9693044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9693044</a>] [<a href="https://doi.org/10.1006/geno.1998.5343" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9693044">Ring et al. (1998)</a> mapped the SMARCC2 gene to chromosome 12q13-q14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9693044" 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>Using transgenic mice, <a href="#4" class="mim-tip-reference" title="Tuoc, T. C., Boretius, S., Sansom, S. N., Pitulescu, M.-E., Frahm, J., Livesey, F. J., Stoykova, A. <strong>Chromatin regulation by BAF170 controls cerebral size and thickness.</strong> Dev. Cell 25: 256-269, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643363</a>] [<a href="https://doi.org/10.1016/j.devcel.2013.04.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23643363">Tuoc et al. (2013)</a> found that Baf170 regulated cortical size and thickness by controlling the direct or indirect mode of cortical neuronal output, thereby influencing the composition of lower and upper layer laminae. Baf170 interacted with Pax6 (<a href="/entry/607108">607108</a>) and suppressed expression of Pax6 target genes, including those that regulate generation of intermediate and late cortical progenitors, by directly recruiting the REST (<a href="/entry/600571">600571</a>)-corepressor (RCOR; <a href="/entry/607675">607675</a>) complex to their promoters. Baf155 and Baf170 competed with one another within the SWI/SNF complex in cortical radial glial cells, and the balance between Baf170 and Baf155 affected chromatin modifications and modulated binding of the Pax6/REST-corepressor complex to Pax6 target promoters. <a href="#4" class="mim-tip-reference" title="Tuoc, T. C., Boretius, S., Sansom, S. N., Pitulescu, M.-E., Frahm, J., Livesey, F. J., Stoykova, A. <strong>Chromatin regulation by BAF170 controls cerebral size and thickness.</strong> Dev. Cell 25: 256-269, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643363</a>] [<a href="https://doi.org/10.1016/j.devcel.2013.04.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23643363">Tuoc et al. (2013)</a> concluded that BAF170 acts within a precise time window to repress indirect cortical neurogenesis and control cortical size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23643363" 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 with Coffin-Siris syndrome-8 (CSS8; <a href="/entry/618362">618362</a>), <a href="#1" class="mim-tip-reference" title="Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y., Stong, N., Fiala, E., Willing, M., and 34 others. <strong>Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay.</strong> Am. J. Hum. Genet. 104: 164-178, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30580808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30580808</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30580808">Machol et al. (2019)</a> detected 13 heterozygous mutations in the SMARCC2 gene, 12 of which occurred de novo. Three mutations affected splicing, 1 resulted in frameshift, 1 caused a premature termination codon, 7 were missense, and 1 was an in-frame single amino acid deletion. Two mutations were recurrent. All 7 missense mutations occurred in highly conserved amino acids and were predicted to be deleterious by various in silico tools. The mutations clustered in the SWIRM and SANT domains of the protein, and the presence of a majority of missense and splice site mutations suggested a dominant-negative mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30580808" 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><a href="#4" class="mim-tip-reference" title="Tuoc, T. C., Boretius, S., Sansom, S. N., Pitulescu, M.-E., Frahm, J., Livesey, F. J., Stoykova, A. <strong>Chromatin regulation by BAF170 controls cerebral size and thickness.</strong> Dev. Cell 25: 256-269, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643363</a>] [<a href="https://doi.org/10.1016/j.devcel.2013.04.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23643363">Tuoc et al. (2013)</a> found that Baf170-null mice died shortly after birth. Conditional knockout of Baf170 in developing cortex of transgenic mice promoted indirect neurogenesis and resulted in an enlarged cortex, whereas conditional overexpression of Baf170 in developing cortex induced direct neurogenesis and resulted in a smaller cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23643363" 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><a href="#5" class="mim-tip-reference" title="Tuoc, T., Dere, E., Radyushkin, K., Pham, L., Nguyen, H., Tonchev, A. B., Sun, G., Ronnenberg, A., Shi, Y., Staiger, J. F., Ehrenreich, H., Stoykova, A. <strong>Ablation of BAF170 in developing and postnatal dentate gyrus affects neural stem cell proliferation, differentiation, and learning.</strong> Molec. Neurobiol. 54: 4618-4635, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27392482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27392482</a>] [<a href="https://doi.org/10.1007/s12035-016-9948-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27392482">Tuoc et al. (2017)</a> found that conditional deletion of Baf170 in developing and postnatal mouse hippocampus affected positioning and proliferation of RGL cells in subgranular zone (SGZ) of dentate gyrus (DG). Baf170-deleted RGL cells underwent premature differentiation predominantly into astrocytes rather than generating neuronal progenitors and neurons, resulting in depletion of the RGL cell pool in SGZ of DG. Deletion of Baf170 in the SGZ of DG in adult mouse brain also affected generation and maintenance of RGL progenitors, which seemed to differentiate into astrocytes prematurely. Ablation of Baf170 during late and postnatal hippocampus neurogenesis impaired the accuracy of place responding and reversal learning. In contrast, deletion of Baf170 in adult mouse brain impaired spatial learning during late stages, but impairment of hidden platform task and reduction of proactive memory interference during early stages was only moderate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27392482" 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 a 7-year-old boy with Coffin-Siris syndrome-8 (CSS8; <a href="/entry/618362">618362</a>) from a nonconsanguineous family (trio 74), <a href="#7" class="mim-tip-reference" title="Zhu, X., Petrovski, S., Xie, P., Ruzzo, E. K., Lu, Y.-F., McSweeney, K. M., Ben-Zeev, B., Nissenkorn, A., Anikster, Y., Oz-Levi, D., Dhindsa, R. S., Hitomi, Y., and 15 others. <strong>Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.</strong> Genet. Med. 17: 774-781, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25590979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25590979</a>] [<a href="https://doi.org/10.1038/gim.2014.191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25590979">Zhu et al. (2015)</a> detected heterozygosity for a c.1833+2T-C transition in the SMARCC2 gene that disrupted a canonical splice site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25590979" 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><a href="#1" class="mim-tip-reference" title="Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y., Stong, N., Fiala, E., Willing, M., and 34 others. <strong>Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay.</strong> Am. J. Hum. Genet. 104: 164-178, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30580808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30580808</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30580808">Machol et al. (2019)</a> included the patient of <a href="#7" class="mim-tip-reference" title="Zhu, X., Petrovski, S., Xie, P., Ruzzo, E. K., Lu, Y.-F., McSweeney, K. M., Ben-Zeev, B., Nissenkorn, A., Anikster, Y., Oz-Levi, D., Dhindsa, R. S., Hitomi, Y., and 15 others. <strong>Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.</strong> Genet. Med. 17: 774-781, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25590979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25590979</a>] [<a href="https://doi.org/10.1038/gim.2014.191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25590979">Zhu et al. (2015)</a> in their report as patient 10, and additionally found the c.1833+2T-C mutation (c.1833+2T-C, NM_003075.3) in a 2.5-year-old boy (patient 9). The authors showed that the mutation occurred de novo in both cases. <a href="#1" class="mim-tip-reference" title="Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y., Stong, N., Fiala, E., Willing, M., and 34 others. <strong>Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay.</strong> Am. J. Hum. Genet. 104: 164-178, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30580808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30580808</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30580808">Machol et al. (2019)</a> noted that the mutation occurred in intron 19 in the highly conserved SANT domain, which has DNA-binding activity and functions as a histone tail-binding module. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25590979+30580808" 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">rs1206884190 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1206884190;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=rs1206884190" 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=rs1206884190" 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=RCV000761373 OR RCV001268569" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000761373, RCV001268569" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000761373...</a>
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<p>In a female patient (patient 36) with Coffin-Siris syndrome-8 (CSS8; <a href="/entry/618362">618362</a>), <a href="#2" class="mim-tip-reference" title="Martinez, F., Caro-Llopis, A., Rosello, M., Oltra, S., Mayo, S., Monfort, S., Orellana, C. <strong>High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.</strong> J. Med. Genet. 54: 87-92, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27620904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27620904</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103964" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27620904">Martinez et al. (2017)</a> reported a de novo heterozygous c.1311-3C-G transversion (c.1311-3C-G, NM_003075.3) in the SMARCC2 gene that was predicted to result in aberrant splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27620904" 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><a href="#1" class="mim-tip-reference" title="Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y., Stong, N., Fiala, E., Willing, M., and 34 others. <strong>Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay.</strong> Am. J. Hum. Genet. 104: 164-178, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30580808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30580808</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30580808">Machol et al. (2019)</a> reported the patient of <a href="#2" class="mim-tip-reference" title="Martinez, F., Caro-Llopis, A., Rosello, M., Oltra, S., Mayo, S., Monfort, S., Orellana, C. <strong>High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.</strong> J. Med. Genet. 54: 87-92, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27620904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27620904</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-103964" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27620904">Martinez et al. (2017)</a> as patient 4, and gave her age as 17 years. The c.1311-3C-G mutation in intron 14 occurs in the SWIRM domain of the protein, which interacts with DNA, binds dinucleosome structures, and mediates specific protein-protein interactions. Quantitative RT-PCR in lymphocytes from patient 4 demonstrated an approximately 50% decrease in SMARCC2 mRNA compared to a control, suggesting haploinsufficiency through nonsense-mediated decay (NMD). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27620904+30580808" 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">rs1565903367 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565903367;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=rs1565903367" 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=rs1565903367" 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=RCV000761374 OR RCV002269310" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000761374, RCV002269310" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000761374...</a>
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<p>In 2 unrelated individuals (patients 6 and 7) with Coffin-Siris syndrome-8 (CSS8; <a href="/entry/618362">618362</a>), <a href="#1" class="mim-tip-reference" title="Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y., Stong, N., Fiala, E., Willing, M., and 34 others. <strong>Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay.</strong> Am. J. Hum. Genet. 104: 164-178, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30580808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30580808</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30580808">Machol et al. (2019)</a> reported a heterozygous de novo c.1829T-C transition (c.1829T-C, NM_003075.3) in exon 19 of the SMARCC2 gene, resulting in a leucine-to-proline substitution at codon 610 (L610P). Patient 6 was an 18-year-old female, and patient 7 was an 11-year-old male. The L610P mutation occurs in the SANT domain of the protein, which has DNA-binding activity and functions as a histone tail-binding module. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30580808" 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">rs1565917836 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565917836;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=rs1565917836" 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=rs1565917836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 3-year-old boy (patient 2) and his affected father with Coffin-Siris syndrome-8 (CSS8; <a href="/entry/618362">618362</a>), <a href="#1" class="mim-tip-reference" title="Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y., Stong, N., Fiala, E., Willing, M., and 34 others. <strong>Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay.</strong> Am. J. Hum. Genet. 104: 164-178, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30580808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30580808</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30580808">Machol et al. (2019)</a> identified a heterozygous de novo c.723G-A transition (c.723G-A, NM_003075.3) in exon 9 of the SMARCC2 gene, resulting in a tryptophan-to-termination substitution at codon 241 (W241X). Both the patient and his father had a mild phenotype. Neither RNA nor cells from the patient were available to test for NMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30580808" 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">rs1565896447 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565896447;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=rs1565896447" 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=rs1565896447" 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=RCV000761376" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000761376" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000761376</a>
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<p>In an 8-year-old male (patient 13) with Coffin-Siris syndrome-8 (CSS8; <a href="/entry/618362">618362</a>), <a href="#1" class="mim-tip-reference" title="Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y., Stong, N., Fiala, E., Willing, M., and 34 others. <strong>Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay.</strong> Am. J. Hum. Genet. 104: 164-178, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30580808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30580808</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.11.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30580808">Machol et al. (2019)</a> reported a heterozygous de novo c.2686A-G transition (c.2686A-G, NM_003075.3) in exon 25 of the SMARCC2 gene, resulting in a met896-to-val substitution (M896V). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30580808" 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>REFERENCES</strong>
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<a id="Machol2019" class="mim-anchor"></a>
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<div class="">
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Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y., Stong, N., Fiala, E., Willing, M., and 34 others.
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<strong>Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay.</strong>
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Am. J. Hum. Genet. 104: 164-178, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30580808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30580808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30580808" 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.2018.11.007" target="_blank">Full Text</a>]
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<a id="Martinez2017" class="mim-anchor"></a>
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Martinez, F., Caro-Llopis, A., Rosello, M., Oltra, S., Mayo, S., Monfort, S., Orellana, C.
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<strong>High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.</strong>
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J. Med. Genet. 54: 87-92, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27620904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27620904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27620904" 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/10.1136/jmedgenet-2016-103964" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Ring1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ring, H. Z., Vameghi-Meyers, V., Wang, W., Crabtree, G. R., Francke, U.
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<strong>Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome.</strong>
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Genomics 51: 140-143, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9693044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9693044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9693044" 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/10.1006/geno.1998.5343" target="_blank">Full Text</a>]
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<a id="Tuoc2013" class="mim-anchor"></a>
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Tuoc, T. C., Boretius, S., Sansom, S. N., Pitulescu, M.-E., Frahm, J., Livesey, F. J., Stoykova, A.
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<strong>Chromatin regulation by BAF170 controls cerebral size and thickness.</strong>
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Dev. Cell 25: 256-269, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23643363" 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.devcel.2013.04.005" target="_blank">Full Text</a>]
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<a id="Tuoc2017" class="mim-anchor"></a>
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Tuoc, T., Dere, E., Radyushkin, K., Pham, L., Nguyen, H., Tonchev, A. B., Sun, G., Ronnenberg, A., Shi, Y., Staiger, J. F., Ehrenreich, H., Stoykova, A.
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<strong>Ablation of BAF170 in developing and postnatal dentate gyrus affects neural stem cell proliferation, differentiation, and learning.</strong>
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Molec. Neurobiol. 54: 4618-4635, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27392482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27392482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27392482" 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/10.1007/s12035-016-9948-5" target="_blank">Full Text</a>]
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Wang, W., Xue, Y., Zhou, S., Kuo, A., Cairns, B. R., Crabtree, G. R.
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<strong>Diversity and specialization of mammalian SWI/SNF complexes.</strong>
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Genes Dev. 10: 2117-2130, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8804307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8804307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8804307" 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/10.1101/gad.10.17.2117" target="_blank">Full Text</a>]
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<a id="Zhu2015" class="mim-anchor"></a>
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Zhu, X., Petrovski, S., Xie, P., Ruzzo, E. K., Lu, Y.-F., McSweeney, K. M., Ben-Zeev, B., Nissenkorn, A., Anikster, Y., Oz-Levi, D., Dhindsa, R. S., Hitomi, Y., and 15 others.
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<strong>Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.</strong>
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Genet. Med. 17: 774-781, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25590979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25590979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25590979" 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/10.1038/gim.2014.191" target="_blank">Full Text</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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Bao Lige - updated : 05/15/2019
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<span class="mim-text-font">
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Bao Lige - updated : 04/04/2019<br>Ada Hamosh - updated : 03/19/2019<br>Carol A. Bocchini - updated : 4/4/1999
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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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Jennifer P. Macke : 4/4/1997
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<span class="mim-text-font">
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mgross : 05/15/2019
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 04/05/2019<br>mgross : 04/04/2019<br>alopez : 03/19/2019<br>alopez : 04/28/2010<br>mgross : 4/6/1999<br>carol : 4/4/1999<br>alopez : 12/22/1998<br>terry : 6/17/1998<br>joanna : 6/15/1997<br>joanna : 6/11/1997<br>alopez : 5/1/1997<br>alopez : 4/9/1997<br>alopez : 4/9/1997<br>alopez : 4/7/1997
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<span class="mim-font">
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<strong>*</strong> 601734
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<h3>
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SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 2; SMARCC2
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</span>
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</h3>
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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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MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 170<br />
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BRG1-ASSOCIATED FACTOR, 170-KD; BAF170<br />
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CHROMATIN REMODELING COMPLEX BAF170 SUBUNIT<br />
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SWI3, YEAST, HOMOLOG OF
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SMARCC2</em></strong>
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<strong>
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<em>
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Cytogenetic location: 12q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:56,162,359-56,189,483 </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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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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Phenotype <br /> MIM number
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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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<td rowspan="1">
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<span class="mim-font">
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12q13.2
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<td>
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<span class="mim-font">
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Coffin-Siris syndrome 8
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</td>
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<td>
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<span class="mim-font">
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618362
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>The SMARCC2 gene encodes BAF170, the 170-kD subunit of the SWI/SNF chromatin remodeling complex (Wang et al., 1996). </p><p>See also BAF60a (601735), -b (601736), and -c (601737), other subunits in this complex.</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>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>Chromatin is actively remodeled during development. Chromatin remodeling of certain genes appears to precede their transcriptional activation. In yeast, the multisubunit SWI/SNF complex is thought to be responsible for chromatin remodeling. Wang et al. (1996) isolated an analogous SWI/SNF complex from the human YT cell line. They found that the resultant complexes are composed of 9 to 12 polypeptides, which they termed BAFs (for BRG1-associated factors). The BAF170 subunit encodes a polypeptide of 1,213 amino acids and is homologous both to the yeast SWI3 gene and to BAF155 (601732). SWI3, BAF155, and BAF170 all contain a predicted leucine zipper region (a dimerization motif for a variety of transcription factors) and a myb-like tryptophan-repeat domain. Western blot analysis and EST database analysis revealed that BAF170 is expressed in many tissues. </p><p>By immunohistochemical analysis of adult mouse hippocampus, Tuoc et al. (2017) found that Baf170 was expressed in cell types involved in the sequential steps of adult neurogenesis, including radial glial-like (RGL) cells, mature astrocytes, immature neurons, and mature neurons. </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>By PCR of a somatic cell hybrid panel and radiation hybrid analysis, Ring et al. (1998) mapped the SMARCC2 gene to chromosome 12q13-q14. </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>Gene Function</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>Using transgenic mice, Tuoc et al. (2013) found that Baf170 regulated cortical size and thickness by controlling the direct or indirect mode of cortical neuronal output, thereby influencing the composition of lower and upper layer laminae. Baf170 interacted with Pax6 (607108) and suppressed expression of Pax6 target genes, including those that regulate generation of intermediate and late cortical progenitors, by directly recruiting the REST (600571)-corepressor (RCOR; 607675) complex to their promoters. Baf155 and Baf170 competed with one another within the SWI/SNF complex in cortical radial glial cells, and the balance between Baf170 and Baf155 affected chromatin modifications and modulated binding of the Pax6/REST-corepressor complex to Pax6 target promoters. Tuoc et al. (2013) concluded that BAF170 acts within a precise time window to repress indirect cortical neurogenesis and control cortical size. </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 with Coffin-Siris syndrome-8 (CSS8; 618362), Machol et al. (2019) detected 13 heterozygous mutations in the SMARCC2 gene, 12 of which occurred de novo. Three mutations affected splicing, 1 resulted in frameshift, 1 caused a premature termination codon, 7 were missense, and 1 was an in-frame single amino acid deletion. Two mutations were recurrent. All 7 missense mutations occurred in highly conserved amino acids and were predicted to be deleterious by various in silico tools. The mutations clustered in the SWIRM and SANT domains of the protein, and the presence of a majority of missense and splice site mutations suggested a dominant-negative mechanism. </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>Animal Model</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>Tuoc et al. (2013) found that Baf170-null mice died shortly after birth. Conditional knockout of Baf170 in developing cortex of transgenic mice promoted indirect neurogenesis and resulted in an enlarged cortex, whereas conditional overexpression of Baf170 in developing cortex induced direct neurogenesis and resulted in a smaller cortex. </p><p>Tuoc et al. (2017) found that conditional deletion of Baf170 in developing and postnatal mouse hippocampus affected positioning and proliferation of RGL cells in subgranular zone (SGZ) of dentate gyrus (DG). Baf170-deleted RGL cells underwent premature differentiation predominantly into astrocytes rather than generating neuronal progenitors and neurons, resulting in depletion of the RGL cell pool in SGZ of DG. Deletion of Baf170 in the SGZ of DG in adult mouse brain also affected generation and maintenance of RGL progenitors, which seemed to differentiate into astrocytes prematurely. Ablation of Baf170 during late and postnatal hippocampus neurogenesis impaired the accuracy of place responding and reversal learning. In contrast, deletion of Baf170 in adult mouse brain impaired spatial learning during late stages, but impairment of hidden platform task and reduction of proactive memory interference during early stages was only moderate. </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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<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>5 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 COFFIN-SIRIS SYNDROME 8</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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SMARCC2, IVS19, T-C, +2
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<br />
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SNP: rs1565903353,
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ClinVar: RCV000761372
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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 7-year-old boy with Coffin-Siris syndrome-8 (CSS8; 618362) from a nonconsanguineous family (trio 74), Zhu et al. (2015) detected heterozygosity for a c.1833+2T-C transition in the SMARCC2 gene that disrupted a canonical splice site. </p><p>Machol et al. (2019) included the patient of Zhu et al. (2015) in their report as patient 10, and additionally found the c.1833+2T-C mutation (c.1833+2T-C, NM_003075.3) in a 2.5-year-old boy (patient 9). The authors showed that the mutation occurred de novo in both cases. Machol et al. (2019) noted that the mutation occurred in intron 19 in the highly conserved SANT domain, which has DNA-binding activity and functions as a histone tail-binding module. </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 COFFIN-SIRIS SYNDROME 8</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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SMARCC2, IVS14, C-G, -3
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<br />
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SNP: rs1206884190,
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ClinVar: RCV000761373, RCV001268569
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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 female patient (patient 36) with Coffin-Siris syndrome-8 (CSS8; 618362), Martinez et al. (2017) reported a de novo heterozygous c.1311-3C-G transversion (c.1311-3C-G, NM_003075.3) in the SMARCC2 gene that was predicted to result in aberrant splicing. </p><p>Machol et al. (2019) reported the patient of Martinez et al. (2017) as patient 4, and gave her age as 17 years. The c.1311-3C-G mutation in intron 14 occurs in the SWIRM domain of the protein, which interacts with DNA, binds dinucleosome structures, and mediates specific protein-protein interactions. Quantitative RT-PCR in lymphocytes from patient 4 demonstrated an approximately 50% decrease in SMARCC2 mRNA compared to a control, suggesting haploinsufficiency through nonsense-mediated decay (NMD). </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">
|
|
<strong>.0003 COFFIN-SIRIS SYNDROME 8</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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SMARCC2, LEU610PRO
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<br />
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SNP: rs1565903367,
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|
|
ClinVar: RCV000761374, RCV002269310
|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated individuals (patients 6 and 7) with Coffin-Siris syndrome-8 (CSS8; 618362), Machol et al. (2019) reported a heterozygous de novo c.1829T-C transition (c.1829T-C, NM_003075.3) in exon 19 of the SMARCC2 gene, resulting in a leucine-to-proline substitution at codon 610 (L610P). Patient 6 was an 18-year-old female, and patient 7 was an 11-year-old male. The L610P mutation occurs in the SANT domain of the protein, which has DNA-binding activity and functions as a histone tail-binding module. </p>
|
|
</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>.0004 COFFIN-SIRIS SYNDROME 8</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCC2, TRP241TER
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|
|
<br />
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|
|
|
SNP: rs1565917836,
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|
|
|
|
|
|
|
ClinVar: RCV000761375
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old boy (patient 2) and his affected father with Coffin-Siris syndrome-8 (CSS8; 618362), Machol et al. (2019) identified a heterozygous de novo c.723G-A transition (c.723G-A, NM_003075.3) in exon 9 of the SMARCC2 gene, resulting in a tryptophan-to-termination substitution at codon 241 (W241X). Both the patient and his father had a mild phenotype. Neither RNA nor cells from the patient were available to test for NMD. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 COFFIN-SIRIS SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCC2, MET896VAL
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|
|
<br />
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|
|
SNP: rs1565896447,
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|
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|
|
ClinVar: RCV000761376
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old male (patient 13) with Coffin-Siris syndrome-8 (CSS8; 618362), Machol et al. (2019) reported a heterozygous de novo c.2686A-G transition (c.2686A-G, NM_003075.3) in exon 25 of the SMARCC2 gene, resulting in a met896-to-val substitution (M896V). </p>
|
|
</span>
|
|
</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>REFERENCES</strong>
|
|
</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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<ol>
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<li>
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<p class="mim-text-font">
|
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Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y., Stong, N., Fiala, E., Willing, M., and 34 others.
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|
<strong>Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay.</strong>
|
|
Am. J. Hum. Genet. 104: 164-178, 2019.
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[PubMed: 30580808]
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[Full Text: https://doi.org/10.1016/j.ajhg.2018.11.007]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Martinez, F., Caro-Llopis, A., Rosello, M., Oltra, S., Mayo, S., Monfort, S., Orellana, C.
|
|
<strong>High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.</strong>
|
|
J. Med. Genet. 54: 87-92, 2017.
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[PubMed: 27620904]
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[Full Text: https://doi.org/10.1136/jmedgenet-2016-103964]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ring, H. Z., Vameghi-Meyers, V., Wang, W., Crabtree, G. R., Francke, U.
|
|
<strong>Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome.</strong>
|
|
Genomics 51: 140-143, 1998.
|
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[PubMed: 9693044]
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[Full Text: https://doi.org/10.1006/geno.1998.5343]
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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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Tuoc, T. C., Boretius, S., Sansom, S. N., Pitulescu, M.-E., Frahm, J., Livesey, F. J., Stoykova, A.
|
|
<strong>Chromatin regulation by BAF170 controls cerebral size and thickness.</strong>
|
|
Dev. Cell 25: 256-269, 2013.
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[PubMed: 23643363]
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[Full Text: https://doi.org/10.1016/j.devcel.2013.04.005]
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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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Tuoc, T., Dere, E., Radyushkin, K., Pham, L., Nguyen, H., Tonchev, A. B., Sun, G., Ronnenberg, A., Shi, Y., Staiger, J. F., Ehrenreich, H., Stoykova, A.
|
|
<strong>Ablation of BAF170 in developing and postnatal dentate gyrus affects neural stem cell proliferation, differentiation, and learning.</strong>
|
|
Molec. Neurobiol. 54: 4618-4635, 2017.
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[PubMed: 27392482]
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[Full Text: https://doi.org/10.1007/s12035-016-9948-5]
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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, W., Xue, Y., Zhou, S., Kuo, A., Cairns, B. R., Crabtree, G. R.
|
|
<strong>Diversity and specialization of mammalian SWI/SNF complexes.</strong>
|
|
Genes Dev. 10: 2117-2130, 1996.
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[PubMed: 8804307]
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[Full Text: https://doi.org/10.1101/gad.10.17.2117]
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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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Zhu, X., Petrovski, S., Xie, P., Ruzzo, E. K., Lu, Y.-F., McSweeney, K. M., Ben-Zeev, B., Nissenkorn, A., Anikster, Y., Oz-Levi, D., Dhindsa, R. S., Hitomi, Y., and 15 others.
|
|
<strong>Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.</strong>
|
|
Genet. Med. 17: 774-781, 2015.
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[PubMed: 25590979]
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[Full Text: https://doi.org/10.1038/gim.2014.191]
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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>
|
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Bao Lige - updated : 05/15/2019<br>Bao Lige - updated : 04/04/2019<br>Ada Hamosh - updated : 03/19/2019<br>Carol A. Bocchini - updated : 4/4/1999
|
|
</span>
|
|
</div>
|
|
</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 class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Jennifer P. Macke : 4/4/1997
|
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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>
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