rs80358452
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs80358452(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32333148 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358452 |
dbSNP (classic) | rs80358452 |
ClinGen | rs80358452 |
ebi | rs80358452 |
HLI | rs80358452 |
Exac | rs80358452 |
Gnomad | rs80358452 |
Varsome | rs80358452 |
LitVar | rs80358452 |
Map | rs80358452 |
PheGenI | rs80358452 |
Biobank | rs80358452 |
1000 genomes | rs80358452 |
hgdp | rs80358452 |
ensembl | rs80358452 |
geneview | rs80358452 |
scholar | rs80358452 |
rs80358452 | |
pharmgkb | rs80358452 |
gwascentral | rs80358452 |
openSNP | rs80358452 |
23andMe | rs80358452 |
SNPshot | rs80358452 |
SNPdbe | rs80358452 |
MSV3d | rs80358452 |
GWAS Ctlg | rs80358452 |
Max Magnitude | 6 |
rs80358452, also known as L557X, c.1670T>G and p.Leu557Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80358452(G;G) |
Alt | rs80358452(G;G) |
Reference | Rs80358452(T;T) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32907285T>G |
CLNSRC | ClinVar |
CLNACC | RCV000043857.4, RCV000112952.3, RCV000212212.2, RCV000217402.1, |