Entry Search - 118511 605328 612001 612024

Search: '118511 605328 612001 612024 (Search in: MIM number)'

Results: 4 entries.

* 612024. OTU DOMAIN-CONTAINING PROTEIN 7A; OTUD7A
Cytogenetic location: 15q13.3, Genomic coordinates (GRCh38): 15:31,475,398-31,870,673
Matching terms: 612024
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q13.3	Neurodevelopmental disorder with hypotonia and seizures	620790	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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# 612001. CHROMOSOME 15q13.3 DELETION SYNDROME
Cytogenetic location: 15q13.3, Genomic coordinates (GRCh38): 15:30,900,001-33,400,000
Matching terms: 612001
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q13.3	Chromosome 15q13.3 microdeletion syndrome	612001		4

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials DECIPHER EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
SNOMEDCT: 699254009 ORPHA: 199318 DO: 0060394

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* 118511. CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7
Cytogenetic location: 15q13.3, Genomic coordinates (GRCh38): 15:32,030,483-32,173,018
Matching terms: 118511
► Links

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00000046 WBGene00000048 WBGene00000049 WBGene00000050 WBGene00000053 WBGene00000054 WBGene00000055 WBGene00000058 WBGene00001133 WBGene00043066 ZFin	Cellular Pathways KEGG Reactome

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* 605328. KRUPPEL-LIKE FACTOR 13; KLF13
Cytogenetic location: 15q13.3, Genomic coordinates (GRCh38): 15:31,326,835-31,435,665
Matching terms: 605328
► Links

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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Search: 118511 605328 612001 612024 (Search in: MIM number)

Results: 4 entries.

* 612024. OTU DOMAIN-CONTAINING PROTEIN 7A; OTUD7A
Cytogenetic location: 15q13.3, Genomic coordinates (GRCh38): 15:31,475,398-31,870,673
Matching terms: 612024

# 612001. CHROMOSOME 15q13.3 DELETION SYNDROME
Cytogenetic location: 15q13.3, Genomic coordinates (GRCh38): 15:30,900,001-33,400,000
Matching terms: 612001

* 118511. CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7
Cytogenetic location: 15q13.3, Genomic coordinates (GRCh38): 15:32,030,483-32,173,018
Matching terms: 118511

* 605328. KRUPPEL-LIKE FACTOR 13; KLF13
Cytogenetic location: 15q13.3, Genomic coordinates (GRCh38): 15:31,326,835-31,435,665
Matching terms: 605328

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