rs80359715
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AGAG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AGAG;AGAG) | 0 | common in clinvar |
Make rs80359715(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32371003 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359715 |
dbSNP (classic) | rs80359715 |
ClinGen | rs80359715 |
ebi | rs80359715 |
HLI | rs80359715 |
Exac | rs80359715 |
Gnomad | rs80359715 |
Varsome | rs80359715 |
LitVar | rs80359715 |
Map | rs80359715 |
PheGenI | rs80359715 |
Biobank | rs80359715 |
1000 genomes | rs80359715 |
hgdp | rs80359715 |
ensembl | rs80359715 |
geneview | rs80359715 |
scholar | rs80359715 |
rs80359715 | |
pharmgkb | rs80359715 |
gwascentral | rs80359715 |
openSNP | rs80359715 |
23andMe | rs80359715 |
SNPshot | rs80359715 |
SNPdbe | rs80359715 |
MSV3d | rs80359715 |
GWAS Ctlg | rs80359715 |
Max Magnitude | 6 |
rs80359715, also known as 8763del4, c.8535_8538delAGAG and p.Arg2845_Glu2846?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359715(-;-) |
Alt | rs80359715(-;-) |
Reference | Rs80359715(AGAG;AGAG) |
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.32945140_32945143delAGAG |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000045549.2, RCV000113957.3, |