rs80359144
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80359144(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32379495 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359144 |
dbSNP (classic) | rs80359144 |
ClinGen | rs80359144 |
ebi | rs80359144 |
HLI | rs80359144 |
Exac | rs80359144 |
Gnomad | rs80359144 |
Varsome | rs80359144 |
LitVar | rs80359144 |
Map | rs80359144 |
PheGenI | rs80359144 |
Biobank | rs80359144 |
1000 genomes | rs80359144 |
hgdp | rs80359144 |
ensembl | rs80359144 |
geneview | rs80359144 |
scholar | rs80359144 |
rs80359144 | |
pharmgkb | rs80359144 |
gwascentral | rs80359144 |
openSNP | rs80359144 |
23andMe | rs80359144 |
SNPshot | rs80359144 |
SNPdbe | rs80359144 |
MSV3d | rs80359144 |
GWAS Ctlg | rs80359144 |
Max Magnitude | 6 |
rs80359144, also known as S2978X, c.8933C>A and p.Ser2978Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359144(A;A) rs80359144(G;G) |
Alt | rs80359144(A;A) rs80359144(G;G) |
Reference | Rs80359144(C;C) |
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.32953632C>A; NC_000013.10:g.32953632C>G |
CLNSRC | ClinVar |
CLNACC | RCV000045660.2, RCV000114016.3, RCV000449077.1, RCV000077645.3, |