rs80359531
From SNPedia
| Merged into | rs80359530 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;CT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (CT;CT) | 0 | common in clinvar |
| Make rs80359531(-;-) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 13 |
| Position | 32340077 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359531 |
| dbSNP (classic) | rs80359531 |
| ClinGen | rs80359531 |
| ebi | rs80359531 |
| HLI | rs80359531 |
| Exac | rs80359531 |
| Gnomad | rs80359531 |
| Varsome | rs80359531 |
| LitVar | rs80359531 |
| Map | rs80359531 |
| PheGenI | rs80359531 |
| Biobank | rs80359531 |
| 1000 genomes | rs80359531 |
| hgdp | rs80359531 |
| ensembl | rs80359531 |
| geneview | rs80359531 |
| scholar | rs80359531 |
| rs80359531 | |
| pharmgkb | rs80359531 |
| gwascentral | rs80359531 |
| openSNP | rs80359531 |
| 23andMe | rs80359531 |
| SNPshot | rs80359531 |
| SNPdbe | rs80359531 |
| MSV3d | rs80359531 |
| GWAS Ctlg | rs80359531 |
| Status | Merged into rs80359530 |
| Max Magnitude | 6 |
rs80359531, also known as 5950delCT, c.5722_5723delCT and p.Leu1908Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs80359531(CT;CT) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32914214_32914215delCT |
| CLNSRC | Breast Cancer Information Core (BRCA2) OMIM Allelic Variant |
| CLNACC | RCV000009905.14, RCV000044728.7, RCV000131120.3, RCV000160297.3, |
