rs80359183
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs80359183(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32380096 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359183 |
dbSNP (classic) | rs80359183 |
ClinGen | rs80359183 |
ebi | rs80359183 |
HLI | rs80359183 |
Exac | rs80359183 |
Gnomad | rs80359183 |
Varsome | rs80359183 |
LitVar | rs80359183 |
Map | rs80359183 |
PheGenI | rs80359183 |
Biobank | rs80359183 |
1000 genomes | rs80359183 |
hgdp | rs80359183 |
ensembl | rs80359183 |
geneview | rs80359183 |
scholar | rs80359183 |
rs80359183 | |
pharmgkb | rs80359183 |
gwascentral | rs80359183 |
openSNP | rs80359183 |
23andMe | rs80359183 |
SNPshot | rs80359183 |
SNPdbe | rs80359183 |
MSV3d | rs80359183 |
GWAS Ctlg | rs80359183 |
Max Magnitude | 6 |
rs80359183, also known as C3069X, c.9207T>A and p.Cys3069Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359183(A;A) rs80359183(C;C) |
Alt | rs80359183(A;A) rs80359183(C;C) |
Reference | Rs80359183(T;T) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32954233T>A; NC_000013.10:g.32954233T>C |
CLNSRC | ClinVar |
CLNACC | RCV000045747.2, RCV000114065.3, RCV000214550.1, |