rs80359601
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common/normal |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;CATTCATG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs80359601(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340890 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359601 |
dbSNP (classic) | rs80359601 |
ClinGen | rs80359601 |
ebi | rs80359601 |
HLI | rs80359601 |
Exac | rs80359601 |
Gnomad | rs80359601 |
Varsome | rs80359601 |
LitVar | rs80359601 |
Map | rs80359601 |
PheGenI | rs80359601 |
Biobank | rs80359601 |
1000 genomes | rs80359601 |
hgdp | rs80359601 |
ensembl | rs80359601 |
geneview | rs80359601 |
scholar | rs80359601 |
rs80359601 | |
pharmgkb | rs80359601 |
gwascentral | rs80359601 |
openSNP | rs80359601 |
23andMe | rs80359601 |
SNPshot | rs80359601 |
SNPdbe | rs80359601 |
MSV3d | rs80359601 |
GWAS Ctlg | rs80359601 |
Max Magnitude | 6 |
rs80359601, also known as 6763insA, c.6535_6536insA, c.6535dupG, c.6528_6535dupCATTCATG and p.Val2179?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359601(GA;GA) rs80359601(GG;GG) |
Alt | rs80359601(GA;GA) rs80359601(GG;GG) |
Reference | Rs80359601(G;G) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32915027_32915028insA |
CLNSRC | |
CLNACC | RCV000031632.2, RCV000044980.2, |