rs273899705
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (G;G) | 0 | common in clinvar |
| Make rs273899705(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43092188 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs273899705 |
| dbSNP (classic) | rs273899705 |
| ClinGen | rs273899705 |
| ebi | rs273899705 |
| HLI | rs273899705 |
| Exac | rs273899705 |
| Gnomad | rs273899705 |
| Varsome | rs273899705 |
| LitVar | rs273899705 |
| Map | rs273899705 |
| PheGenI | rs273899705 |
| Biobank | rs273899705 |
| 1000 genomes | rs273899705 |
| hgdp | rs273899705 |
| ensembl | rs273899705 |
| geneview | rs273899705 |
| scholar | rs273899705 |
| rs273899705 | |
| pharmgkb | rs273899705 |
| gwascentral | rs273899705 |
| openSNP | rs273899705 |
| 23andMe | rs273899705 |
| SNPshot | rs273899705 |
| SNPdbe | rs273899705 |
| MSV3d | rs273899705 |
| GWAS Ctlg | rs273899705 |
| Max Magnitude | 6 |
rs273899705, also known as 3462delG, c.3343_3343delG and p.Glu1115Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs273899705(-;-) |
| Alt | rs273899705(-;-) |
| Reference | Rs273899705(G;G) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41244205delC |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000048157.2, RCV000112074.3, |
