ANKRD1 Chromosome 10
Ankyrin repeat domain 1
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What This Gene Does
The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
10q23.31
Ensembl
ENSG00000148677
Associated Conditions (10)
ANKRD1-related dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Dilated cardiomyopathy 1A
ANKRD1-related disorder
Congenital total pulmonary venous return anomaly
Primary familial hypertrophic cardiomyopathy
Systolic heart failure
Key Variants
RS1371295947
Conflicting classifications of pathogenicity
ANKRD1-related dilated cardiomyopathy, ANKRD1-related dilated cardiomyopathy
Health Risk
RS139169078
Conflicting classifications of pathogenicity
ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
Health Risk
RS142354133
Conflicting classifications of pathogenicity
Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1431425358
Conflicting classifications of pathogenicity
ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
Health Risk
RS144770680
Conflicting classifications of pathogenicity
ANKRD1-related dilated cardiomyopathy, Cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS145387010
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
Health Risk
RS148189486
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
Health Risk
RS148979787
Conflicting classifications of pathogenicity
Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS150266349
Conflicting classifications of pathogenicity
ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
Health Risk
RS150797476
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
Health Risk
RS1554827672
Conflicting classifications of pathogenicity
Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
Health Risk
RS183061595
Conflicting classifications of pathogenicity
ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1371295947 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, ANKRD1-related dilated cardiomyopathy |
| RS139169078 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS142354133 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype |
| RS1431425358 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS144770680 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiomyopathy, Primary dilated cardiomyopathy |
| RS145387010 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype |
| RS148189486 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS148979787 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS150266349 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS150797476 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS1554827672 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype |
| RS183061595 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS201056963 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS201398260 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype |
| RS35550482 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Congenital total pulmonary venous return anomaly |
| RS370857813 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS372030578 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype |
| RS376540175 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS377074932 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS377661125 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS397517248 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype |
| RS397517251 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiomyopathy, Primary dilated cardiomyopathy |
| RS397517252 | Health Risk | Conflicting classifications of pathogenicity | Congenital total pulmonary venous return anomaly, ANKRD1-related dilated cardiomyopathy, ANKRD1-related disorder |
| RS41286920 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS530739375 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS573892607 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS746392266 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype |
| RS756392442 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS765093690 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype |
| RS780419708 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy, ANKRD1-related disorder |
| RS786205461 | Health Risk | Conflicting classifications of pathogenicity | ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy |
| RS866997710 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |