rs80357067
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs80357067(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43082422 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80357067 |
| dbSNP (classic) | rs80357067 |
| ClinGen | rs80357067 |
| ebi | rs80357067 |
| HLI | rs80357067 |
| Exac | rs80357067 |
| Gnomad | rs80357067 |
| Varsome | rs80357067 |
| LitVar | rs80357067 |
| Map | rs80357067 |
| PheGenI | rs80357067 |
| Biobank | rs80357067 |
| 1000 genomes | rs80357067 |
| hgdp | rs80357067 |
| ensembl | rs80357067 |
| geneview | rs80357067 |
| scholar | rs80357067 |
| rs80357067 | |
| pharmgkb | rs80357067 |
| gwascentral | rs80357067 |
| openSNP | rs80357067 |
| 23andMe | rs80357067 |
| SNPshot | rs80357067 |
| SNPdbe | rs80357067 |
| MSV3d | rs80357067 |
| GWAS Ctlg | rs80357067 |
| Max Magnitude | 6 |
rs80357067, also known as Q1447X, c.4339C>T and p.Gln1447Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs80357067(A;A) rs80357067(T;T) |
| Alt | rs80357067(A;A) rs80357067(T;T) |
| Reference | Rs80357067(C;C) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified Hereditary breast and ovarian cancer syndrome |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not specified Hereditary breast and ovarian cancer syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41234439G>A; NC_000017.10:g.41234439G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000048528.2, RCV000077570.5, RCV000448320.1, RCV000159990.1, RCV000457370.1, |
