Entry Search - 121013 600897 612474

Search: '121013 600897 612474 (Search in: MIM number)'

Results: 3 entries.

# 612474. CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
Cytogenetic location: 1q21.1, Genomic coordinates (GRCh38): 1:143,200,001-147,500,000
Matching terms: 612474
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q21.1	Chromosome 1q21.1 deletion syndrome	612474	AD, IC	4

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

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ICD+
SNOMEDCT: 699305004 ORPHA: 250989 DO: 0060411

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* 121013. GAP JUNCTION PROTEIN, ALPHA-5; GJA5
Cytogenetic location: 1q21.2, Genomic coordinates (GRCh38): 1:147,756,199-147,773,351
Matching terms: 121013
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q21.2	Atrial fibrillation, familial, 11	614049	AD	3
1q21.2	Atrial standstill, digenic (GJA5/SCN5A)	108770	AD	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 ZFin	Cellular Pathways Reactome

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* 600897. GAP JUNCTION PROTEIN, ALPHA-8; GJA8
Cytogenetic location: 1q21.2, Genomic coordinates (GRCh38): 1:147,902,795-147,914,486
Matching terms: 600897
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q21.2	Cataract 1, multiple types	116200	AD	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways Reactome

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Search: 121013 600897 612474 (Search in: MIM number)

Results: 3 entries.

# 612474. CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
Cytogenetic location: 1q21.1, Genomic coordinates (GRCh38): 1:143,200,001-147,500,000
Matching terms: 612474

* 121013. GAP JUNCTION PROTEIN, ALPHA-5; GJA5
Cytogenetic location: 1q21.2, Genomic coordinates (GRCh38): 1:147,756,199-147,773,351
Matching terms: 121013

* 600897. GAP JUNCTION PROTEIN, ALPHA-8; GJA8
Cytogenetic location: 1q21.2, Genomic coordinates (GRCh38): 1:147,902,795-147,914,486
Matching terms: 600897

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