rs80359133
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80359133(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32379332 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359133 |
dbSNP (classic) | rs80359133 |
ClinGen | rs80359133 |
ebi | rs80359133 |
HLI | rs80359133 |
Exac | rs80359133 |
Gnomad | rs80359133 |
Varsome | rs80359133 |
LitVar | rs80359133 |
Map | rs80359133 |
PheGenI | rs80359133 |
Biobank | rs80359133 |
1000 genomes | rs80359133 |
hgdp | rs80359133 |
ensembl | rs80359133 |
geneview | rs80359133 |
scholar | rs80359133 |
rs80359133 | |
pharmgkb | rs80359133 |
gwascentral | rs80359133 |
openSNP | rs80359133 |
23andMe | rs80359133 |
SNPshot | rs80359133 |
SNPdbe | rs80359133 |
MSV3d | rs80359133 |
GWAS Ctlg | rs80359133 |
Max Magnitude | 6 |
rs80359133, also known as E2924X, c.8770G>T and p.Glu2924Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359133(T;T) |
Alt | rs80359133(T;T) |
Reference | Rs80359133(G;G) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32953469G>T |
CLNSRC | ClinVar |
CLNACC | RCV000045624.3, RCV000083149.5, |