GATAD1 Chromosome 7
GATA zinc finger domain containing 1
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What This Gene Does
The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
"GATA zinc finger domain containing|EMSY complex"
Locus Type
gene with protein product
Location
7q21.2
Ensembl
ENSG00000157259
Associated Conditions (3)
Dilated cardiomyopathy 2B
Cardiovascular phenotype
GATAD1-related disorder
Key Variants
RS532003876
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 2B, Cardiovascular phenotype, GATAD1-related disorder
Health Risk
RS776854919
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS876657812
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 2B, Cardiovascular phenotype, GATAD1-related disorder
Health Risk
RS876657814
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 2B, Dilated cardiomyopathy 2B
Health Risk
RS387907188
Pathogenic
Dilated cardiomyopathy 2B, Dilated cardiomyopathy 2B
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS532003876 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 2B, Cardiovascular phenotype, GATAD1-related disorder |
| RS776854919 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS876657812 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 2B, Cardiovascular phenotype, GATAD1-related disorder |
| RS876657814 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 2B, Dilated cardiomyopathy 2B |
| RS387907188 | Health Risk | Pathogenic | Dilated cardiomyopathy 2B, Dilated cardiomyopathy 2B |