rs80357889
From SNPedia
| Merged into | rs80357842 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TGAG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (TGAG;TGAG) | 0 | Normal |
| Make rs80357889(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43091670 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80357889 |
| dbSNP (classic) | rs80357889 |
| ClinGen | rs80357889 |
| ebi | rs80357889 |
| HLI | rs80357889 |
| Exac | rs80357889 |
| Gnomad | rs80357889 |
| Varsome | rs80357889 |
| LitVar | rs80357889 |
| Map | rs80357889 |
| PheGenI | rs80357889 |
| Biobank | rs80357889 |
| 1000 genomes | rs80357889 |
| hgdp | rs80357889 |
| ensembl | rs80357889 |
| geneview | rs80357889 |
| scholar | rs80357889 |
| rs80357889 | |
| pharmgkb | rs80357889 |
| gwascentral | rs80357889 |
| openSNP | rs80357889 |
| 23andMe | rs80357889 |
| SNPshot | rs80357889 |
| SNPdbe | rs80357889 |
| MSV3d | rs80357889 |
| GWAS Ctlg | rs80357889 |
| Status | Merged into rs80357842 |
| Max Magnitude | 6 |
rs80357889, also known as 3977del4, c.3858_3861delTGAG and p.Ser1286_Glu1287?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs80357889(TGAG;TGAG) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41243687_41243690delCTCA |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000031134.7, RCV000048359.5, |
