rs11571658
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (TT;TT) | 0 | common in clinvar |
| Make rs11571658(-;-) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 13 |
| Position | 32340630 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11571658 |
| dbSNP (classic) | rs11571658 |
| ClinGen | rs11571658 |
| ebi | rs11571658 |
| HLI | rs11571658 |
| Exac | rs11571658 |
| Gnomad | rs11571658 |
| Varsome | rs11571658 |
| LitVar | rs11571658 |
| Map | rs11571658 |
| PheGenI | rs11571658 |
| Biobank | rs11571658 |
| 1000 genomes | rs11571658 |
| hgdp | rs11571658 |
| ensembl | rs11571658 |
| geneview | rs11571658 |
| scholar | rs11571658 |
| rs11571658 | |
| pharmgkb | rs11571658 |
| gwascentral | rs11571658 |
| openSNP | rs11571658 |
| 23andMe | rs11571658 |
| SNPshot | rs11571658 |
| SNPdbe | rs11571658 |
| MSV3d | rs11571658 |
| GWAS Ctlg | rs11571658 |
| Max Magnitude | 6 |
rs11571658, also known as 6503delTT, c.6275_6276delTT and p.Leu2092Profs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs11571658(-;-) |
| Alt | rs11571658(-;-) |
| Reference | Rs11571658(TT;TT) |
| 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.32914767_32914768delTT |
| CLNSRC | Breast Cancer Information Core (BRCA2) OMIM Allelic Variant |
| CLNACC | RCV000009903.14, RCV000044884.7, RCV000131029.4, RCV000160300.3, |
