rs80357093
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 4 | considered a pathogenic breast cancer variant |
| (G;G) | 0 | common in clinvar |
| Make rs80357093(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43106486 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80357093 |
| dbSNP (classic) | rs80357093 |
| ClinGen | rs80357093 |
| ebi | rs80357093 |
| HLI | rs80357093 |
| Exac | rs80357093 |
| Gnomad | rs80357093 |
| Varsome | rs80357093 |
| LitVar | rs80357093 |
| Map | rs80357093 |
| PheGenI | rs80357093 |
| Biobank | rs80357093 |
| 1000 genomes | rs80357093 |
| hgdp | rs80357093 |
| ensembl | rs80357093 |
| geneview | rs80357093 |
| scholar | rs80357093 |
| rs80357093 | |
| pharmgkb | rs80357093 |
| gwascentral | rs80357093 |
| openSNP | rs80357093 |
| 23andMe | rs80357093 |
| SNPshot | rs80357093 |
| SNPdbe | rs80357093 |
| MSV3d | rs80357093 |
| GWAS Ctlg | rs80357093 |
| Max Magnitude | 4 |
rs80357093 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 61. The more common rs80357093(G) allele (in dbSNP orientation) encodes Cys, while the rare rs80357093(A) allele encodes Tyr; this variation is also known as Cys61Tyr or C61Y.
This variant is considered pathogenic for breast cancer by ClinVar's Sharing Clinical Reports Project.
| ClinVar | |
|---|---|
| Risk | rs80357093(A;A) |
| Alt | rs80357093(A;A) |
| Reference | Rs80357093(G;G) |
| Significance | Other |
| Disease | Familial cancer of breast Breast-ovarian cancer not provided |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41258503C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000047602.2, RCV000077497.4, RCV000235674.1, |
