| ClinVar
|
| Risk
|
rs1799967(A;A) |
| Alt
|
rs1799967(A;A) |
| Reference
|
Rs1799967(G;G) |
| Significance |
Other |
| Disease |
not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
| Variation | info |
|---|
| Gene |
BRCA1 |
| CLNDBN |
not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.41222975C>T |
| CLNSRC |
Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein) |
| CLNACC |
RCV000034756.3, RCV000048709.8, RCV000112434.5, RCV000120261.4, RCV000128916.4, RCV000476093.1, |