rs80357507
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;AGAAG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (-;GAGAA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (AGAAG;AGAAG) | 0 | common/normal |
| (GAGAA;GAGAA) | 0 | common in clinvar |
| Make rs80357507(-;-) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 43093334 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80357507 |
| dbSNP (classic) | rs80357507 |
| ClinGen | rs80357507 |
| ebi | rs80357507 |
| HLI | rs80357507 |
| Exac | rs80357507 |
| Gnomad | rs80357507 |
| Varsome | rs80357507 |
| LitVar | rs80357507 |
| Map | rs80357507 |
| PheGenI | rs80357507 |
| Biobank | rs80357507 |
| 1000 genomes | rs80357507 |
| hgdp | rs80357507 |
| ensembl | rs80357507 |
| geneview | rs80357507 |
| scholar | rs80357507 |
| rs80357507 | |
| pharmgkb | rs80357507 |
| gwascentral | rs80357507 |
| openSNP | rs80357507 |
| 23andMe | rs80357507 |
| SNPshot | rs80357507 |
| SNPdbe | rs80357507 |
| MSV3d | rs80357507 |
| GWAS Ctlg | rs80357507 |
| Merged from | Rs80357539, Rs80357755, Rs80357771 |
| Max Magnitude | 6 |
rs80357507, also known as 2312del5, c.2193_2197delAGAAG and p.Lys731_Glu733?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | Rs80357507(GAGAA;GAGAA) rs80357507(GAAGA;GAAGA) rs80357507(AAGAG;AAGAG) rs80357507(-;-) |
| Alt | Rs80357507(GAGAA;GAGAA) rs80357507(GAAGA;GAAGA) rs80357507(AAGAG;AAGAG) rs80357507(-;-) |
| Reference | Rs80357507(AGAAG;AGAAG) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer not provided |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41245347_41245351delTTCTC |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000047754.3, RCV000111789.6, RCV000254636.1, |
