rs80359612
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6 | Likely miscall in Ancestry v2c data; otherwise, BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs80359612(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340993 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359612 |
dbSNP (classic) | rs80359612 |
ClinGen | rs80359612 |
ebi | rs80359612 |
HLI | rs80359612 |
Exac | rs80359612 |
Gnomad | rs80359612 |
Varsome | rs80359612 |
LitVar | rs80359612 |
Map | rs80359612 |
PheGenI | rs80359612 |
Biobank | rs80359612 |
1000 genomes | rs80359612 |
hgdp | rs80359612 |
ensembl | rs80359612 |
geneview | rs80359612 |
scholar | rs80359612 |
rs80359612 | |
pharmgkb | rs80359612 |
gwascentral | rs80359612 |
openSNP | rs80359612 |
23andMe | rs80359612 |
SNPshot | rs80359612 |
SNPdbe | rs80359612 |
MSV3d | rs80359612 |
GWAS Ctlg | rs80359612 |
Max Magnitude | 6 |
rs80359612, also known as 6866delC, c.6638_6638delC and p.Ser2213Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359612(-;-) |
Alt | rs80359612(-;-) |
Reference | Rs80359612(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32915130delC |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000045002.2, RCV000113618.2, |