rs80359357
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | common in clinvar |
(GA;GA) | 0 | common in clinvar |
Make rs80359357(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32337191 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359357 |
dbSNP (classic) | rs80359357 |
ClinGen | rs80359357 |
ebi | rs80359357 |
HLI | rs80359357 |
Exac | rs80359357 |
Gnomad | rs80359357 |
Varsome | rs80359357 |
LitVar | rs80359357 |
Map | rs80359357 |
PheGenI | rs80359357 |
Biobank | rs80359357 |
1000 genomes | rs80359357 |
hgdp | rs80359357 |
ensembl | rs80359357 |
geneview | rs80359357 |
scholar | rs80359357 |
rs80359357 | |
pharmgkb | rs80359357 |
gwascentral | rs80359357 |
openSNP | rs80359357 |
23andMe | rs80359357 |
SNPshot | rs80359357 |
SNPdbe | rs80359357 |
MSV3d | rs80359357 |
GWAS Ctlg | rs80359357 |
Max Magnitude | 6 |
rs80359357, also known as 3064delGA, c.2836_2837delGA and p.Asp946Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359357(-;-) |
Alt | rs80359357(-;-) |
Reference | Rs80359357(AG;AG) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32911328_32911329delGA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044071.5, RCV000113101.3, RCV000162914.2, |