rs80359004
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Possible miscall in Ancestry v2d data; otherwise, BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs80359004(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32357882 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359004 |
dbSNP (classic) | rs80359004 |
ClinGen | rs80359004 |
ebi | rs80359004 |
HLI | rs80359004 |
Exac | rs80359004 |
Gnomad | rs80359004 |
Varsome | rs80359004 |
LitVar | rs80359004 |
Map | rs80359004 |
PheGenI | rs80359004 |
Biobank | rs80359004 |
1000 genomes | rs80359004 |
hgdp | rs80359004 |
ensembl | rs80359004 |
geneview | rs80359004 |
scholar | rs80359004 |
rs80359004 | |
pharmgkb | rs80359004 |
gwascentral | rs80359004 |
openSNP | rs80359004 |
23andMe | rs80359004 |
SNPshot | rs80359004 |
SNPdbe | rs80359004 |
MSV3d | rs80359004 |
GWAS Ctlg | rs80359004 |
Max Magnitude | 6 |
rs80359004, also known as W2586X, c.7758G>A and p.Trp2586Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359004(A;A) rs80359004(C;C) |
Alt | rs80359004(A;A) rs80359004(C;C) |
Reference | Rs80359004(G;G) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32932019G>A |
CLNSRC | ClinVar |
CLNACC | RCV000031698.6, RCV000045303.2, RCV000255811.2, |