rs273897658
From SNPedia
| Merged into | rs80357770 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (A;A) | 0 | common in clinvar |
| Make rs273897658(-;-) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 43094144 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs273897658 |
| dbSNP (classic) | rs273897658 |
| ClinGen | rs273897658 |
| ebi | rs273897658 |
| HLI | rs273897658 |
| Exac | rs273897658 |
| Gnomad | rs273897658 |
| Varsome | rs273897658 |
| LitVar | rs273897658 |
| Map | rs273897658 |
| PheGenI | rs273897658 |
| Biobank | rs273897658 |
| 1000 genomes | rs273897658 |
| hgdp | rs273897658 |
| ensembl | rs273897658 |
| geneview | rs273897658 |
| scholar | rs273897658 |
| rs273897658 | |
| pharmgkb | rs273897658 |
| gwascentral | rs273897658 |
| openSNP | rs273897658 |
| 23andMe | rs273897658 |
| SNPshot | rs273897658 |
| SNPdbe | rs273897658 |
| MSV3d | rs273897658 |
| GWAS Ctlg | rs273897658 |
| Status | Merged into rs80357770 |
| Max Magnitude | 6 |
rs273897658, also known as 1506delA, c.1387_1387delA and p.Lys463=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs273897658(A;A) |
| 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.41246158delT |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000047457.2, RCV000111604.4, |
