rs745456776
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common/normal |
| (-;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 13 |
| Position | 32338942 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs745456776 |
| dbSNP (classic) | rs745456776 |
| ClinGen | rs745456776 |
| ebi | rs745456776 |
| HLI | rs745456776 |
| Exac | rs745456776 |
| Gnomad | rs745456776 |
| Varsome | rs745456776 |
| LitVar | rs745456776 |
| Map | rs745456776 |
| PheGenI | rs745456776 |
| Biobank | rs745456776 |
| 1000 genomes | rs745456776 |
| hgdp | rs745456776 |
| ensembl | rs745456776 |
| geneview | rs745456776 |
| scholar | rs745456776 |
| rs745456776 | |
| pharmgkb | rs745456776 |
| gwascentral | rs745456776 |
| openSNP | rs745456776 |
| 23andMe | rs745456776 |
| SNPshot | rs745456776 |
| SNPdbe | rs745456776 |
| MSV3d | rs745456776 |
| GWAS Ctlg | rs745456776 |
| Max Magnitude | 6 |
aka c.4587dupG (p.Lys1530Glufs) and also c.4587_4588insA; this latter term is equivalent to c.4593dupA (p.Val1532Serfs), which is rs397507732. These "insA" variants are the same but (until merged in dbSNP perhaps) come about from whether the insertion is considered to occur at the beginning or end of a run of A's.
23andMe name: i5010511
| ClinVar | |
|---|---|
| Risk | rs745456776(A;A) Rs745456776(G;G) |
| Alt | rs745456776(A;A) Rs745456776(G;G) |
| Reference | Rs745456776(-;-) |
| Significance | Pathogenic |
| Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32913079dupG |
| CLNSRC | |
| CLNACC | RCV000195630.1, RCV000238798.2, RCV000484375.1, |
