rs80359430
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;CTCA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (CACT;CACT) | 0 | common in clinvar |
| (CTCA;CTCA) | 0 | common in clinvar |
| Make rs80359430(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32338488 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359430 |
| dbSNP (classic) | rs80359430 |
| ClinGen | rs80359430 |
| ebi | rs80359430 |
| HLI | rs80359430 |
| Exac | rs80359430 |
| Gnomad | rs80359430 |
| Varsome | rs80359430 |
| LitVar | rs80359430 |
| Map | rs80359430 |
| PheGenI | rs80359430 |
| Biobank | rs80359430 |
| 1000 genomes | rs80359430 |
| hgdp | rs80359430 |
| ensembl | rs80359430 |
| geneview | rs80359430 |
| scholar | rs80359430 |
| rs80359430 | |
| pharmgkb | rs80359430 |
| gwascentral | rs80359430 |
| openSNP | rs80359430 |
| 23andMe | rs80359430 |
| SNPshot | rs80359430 |
| SNPdbe | rs80359430 |
| MSV3d | rs80359430 |
| GWAS Ctlg | rs80359430 |
| Max Magnitude | 6 |
rs80359430, also known as 4361del4, c.4133_4136delCTCA and p.Thr1378_Gln1379?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs80359430(-;-) |
| Alt | rs80359430(-;-) |
| Reference | Rs80359430(CACT;CACT) |
| Significance | Pathogenic |
| Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32912625_32912628delCTCA |
| CLNSRC | Breast Cancer Information Core (BRCA2) |
| CLNACC | RCV000044356.3, RCV000113277.3, RCV000220994.1, |
