ANKRD26 Chromosome 10
Ankyrin repeat domain 26
Upload your DNA to see your personal genotypes for variants in ANKRD26.
What This Gene Does
This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
N-Ank proteins
Locus Type
gene with protein product
Location
10p12.1
Ensembl
ENSG00000107890
Associated Conditions (8)
Thrombocytopenia 2
Inborn genetic diseases
ANKRD26-related disorder
Thrombocytopenia
Abnormal bleeding
Inherited bleeding disorder
platelet-type
Hereditary cancer-predisposing syndrome
Key Variants
RS1010361619
Conflicting classifications of pathogenicity
Thrombocytopenia 2, Thrombocytopenia 2
Health Risk
RS1169563301
Conflicting classifications of pathogenicity
Health Risk
RS1205847358
Conflicting classifications of pathogenicity
Inborn genetic diseases, ANKRD26-related disorder, Inborn genetic diseases
Health Risk
RS1209510659
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1211734208
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1327875225
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1330485324
Conflicting classifications of pathogenicity
Thrombocytopenia 2, Inborn genetic diseases, Thrombocytopenia 2
Health Risk
RS1346412801
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139049098
Conflicting classifications of pathogenicity
Thrombocytopenia 2, ANKRD26-related disorder, Thrombocytopenia 2
Health Risk
RS1416988044
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141748831
Conflicting classifications of pathogenicity
Thrombocytopenia 2, ANKRD26-related disorder, Thrombocytopenia 2
Health Risk
RS1442611750
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (117)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769321217 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772007481 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774535114 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779596861 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780613456 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia 2, Thrombocytopenia 2 |
| RS926871139 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia 2, Inborn genetic diseases, Thrombocytopenia 2 |
| RS946903113 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia 2, Thrombocytopenia 2 |
| RS952789527 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS955032293 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1589257502 | Health Risk | Likely pathogenic | Thrombocytopenia 2, Thrombocytopenia 2 |
| RS1589393799 | Health Risk | Likely pathogenic | Thrombocytopenia, Thrombocytopenia 2, Thrombocytopenia |
| RS910801961 | Health Risk | Likely pathogenic | Thrombocytopenia 2, Thrombocytopenia 2 |
| RS1589393792 | Health Risk | Pathogenic | Thrombocytopenia, Thrombocytopenia 2, Inherited bleeding disorder |
| RS189856879 | Health Risk | Pathogenic | Thrombocytopenia 2, Thrombocytopenia 2 |
| RS1589393759 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia, Thrombocytopenia 2, ANKRD26-related disorder |
| RS1589393809 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia, Thrombocytopenia 2, Thrombocytopenia |
| RS863223318 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia 2, Thrombocytopenia, Hereditary cancer-predisposing syndrome |