rs80357854
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (-;AA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (AA;AA) | 0 | Normal |
| Make rs80357854(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43076489 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80357854 |
| dbSNP (classic) | rs80357854 |
| ClinGen | rs80357854 |
| ebi | rs80357854 |
| HLI | rs80357854 |
| Exac | rs80357854 |
| Gnomad | rs80357854 |
| Varsome | rs80357854 |
| LitVar | rs80357854 |
| Map | rs80357854 |
| PheGenI | rs80357854 |
| Biobank | rs80357854 |
| 1000 genomes | rs80357854 |
| hgdp | rs80357854 |
| ensembl | rs80357854 |
| geneview | rs80357854 |
| scholar | rs80357854 |
| rs80357854 | |
| pharmgkb | rs80357854 |
| gwascentral | rs80357854 |
| openSNP | rs80357854 |
| 23andMe | rs80357854 |
| SNPshot | rs80357854 |
| SNPdbe | rs80357854 |
| MSV3d | rs80357854 |
| GWAS Ctlg | rs80357854 |
| Max Magnitude | 6 |
rs80357854, also known as 4601delAA, c.4482_4483delAA and p.Glu1494_Arg1495GluValfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs80357854(-;-) |
| Alt | rs80357854(-;-) |
| Reference | Rs80357854(AA;AA) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Familial cancer of breast |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41228506_41228507delTT |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000031176.6, RCV000048570.2, |
