rs80357856
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;TGAGA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs80357856(TGAGA;TGAGA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43092478 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80357856 |
| dbSNP (classic) | rs80357856 |
| ClinGen | rs80357856 |
| ebi | rs80357856 |
| HLI | rs80357856 |
| Exac | rs80357856 |
| Gnomad | rs80357856 |
| Varsome | rs80357856 |
| LitVar | rs80357856 |
| Map | rs80357856 |
| PheGenI | rs80357856 |
| Biobank | rs80357856 |
| 1000 genomes | rs80357856 |
| hgdp | rs80357856 |
| ensembl | rs80357856 |
| geneview | rs80357856 |
| scholar | rs80357856 |
| rs80357856 | |
| pharmgkb | rs80357856 |
| gwascentral | rs80357856 |
| openSNP | rs80357856 |
| 23andMe | rs80357856 |
| SNPshot | rs80357856 |
| SNPdbe | rs80357856 |
| MSV3d | rs80357856 |
| GWAS Ctlg | rs80357856 |
| Max Magnitude | 6 |
rs80357856, also known as 3171ins5, c.3052_3053insTGAGA and p.Asn1018?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar. This mutation was originally reported as a founder mutation in western Sweden.
This name appears to be renamed i5009624 by 23andMe.
| ClinVar | |
|---|---|
| Risk | rs80357856(TGAGA;TGAGA) |
| Alt | rs80357856(TGAGA;TGAGA) |
| Reference | Rs80357856(;) |
| Significance | Untested |
| Disease | Familial cancer of breast |
| Variation | info |
| Gene | |
| CLNDBN | Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41244496_41244500dupTCTCA |
| CLNSRC | |
| CLNACC | RCV000048059.2, |
