rs80359417
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;ATGA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (-;TGAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (AATG;AATG) | 0 | common in clinvar |
| (ATGA;ATGA) | 0 | common in clinvar |
| Make rs80359417(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32338311 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359417 |
| dbSNP (classic) | rs80359417 |
| ClinGen | rs80359417 |
| ebi | rs80359417 |
| HLI | rs80359417 |
| Exac | rs80359417 |
| Gnomad | rs80359417 |
| Varsome | rs80359417 |
| LitVar | rs80359417 |
| Map | rs80359417 |
| PheGenI | rs80359417 |
| Biobank | rs80359417 |
| 1000 genomes | rs80359417 |
| hgdp | rs80359417 |
| ensembl | rs80359417 |
| geneview | rs80359417 |
| scholar | rs80359417 |
| rs80359417 | |
| pharmgkb | rs80359417 |
| gwascentral | rs80359417 |
| openSNP | rs80359417 |
| 23andMe | rs80359417 |
| SNPshot | rs80359417 |
| SNPdbe | rs80359417 |
| MSV3d | rs80359417 |
| GWAS Ctlg | rs80359417 |
| Merged from | Rs886038099 |
| Max Magnitude | 6 |
rs80359417, also known as c.3957_3960delTGAA, c.4184del4, c.3956_3959delATGA and p.Asn1319_Glu1320?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs80359417(-;-) rs80359417(TGAA;TGAA) |
| Alt | rs80359417(-;-) rs80359417(TGAA;TGAA) |
| Reference | Rs80359417(ATGA;ATGA) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32912449_32912452delTGAA |
| CLNSRC | Breast Cancer Information Core (BRCA2) |
| CLNACC | RCV000044320.2, RCV000241385.2, |
