rs80359727
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TTAC) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80359727(TTAC;TTAC) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32376785 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359727 |
dbSNP (classic) | rs80359727 |
ClinGen | rs80359727 |
ebi | rs80359727 |
HLI | rs80359727 |
Exac | rs80359727 |
Gnomad | rs80359727 |
Varsome | rs80359727 |
LitVar | rs80359727 |
Map | rs80359727 |
PheGenI | rs80359727 |
Biobank | rs80359727 |
1000 genomes | rs80359727 |
hgdp | rs80359727 |
ensembl | rs80359727 |
geneview | rs80359727 |
scholar | rs80359727 |
rs80359727 | |
pharmgkb | rs80359727 |
gwascentral | rs80359727 |
openSNP | rs80359727 |
23andMe | rs80359727 |
SNPshot | rs80359727 |
SNPdbe | rs80359727 |
MSV3d | rs80359727 |
GWAS Ctlg | rs80359727 |
Max Magnitude | 6 |
rs80359727, also known as 8976ins4, c.8748_8749insTTAC and p.Tyr2916_Leu2917?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359727(CTTA;CTTA) |
Alt | rs80359727(CTTA;CTTA) |
Reference | Rs80359727(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32950919_32950922dupTTAC |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000113991.2, RCV000228171.1, |