rs80359672
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | common in clinvar |
Make rs80359672(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32357797 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359672 |
dbSNP (classic) | rs80359672 |
ClinGen | rs80359672 |
ebi | rs80359672 |
HLI | rs80359672 |
Exac | rs80359672 |
Gnomad | rs80359672 |
Varsome | rs80359672 |
LitVar | rs80359672 |
Map | rs80359672 |
PheGenI | rs80359672 |
Biobank | rs80359672 |
1000 genomes | rs80359672 |
hgdp | rs80359672 |
ensembl | rs80359672 |
geneview | rs80359672 |
scholar | rs80359672 |
rs80359672 | |
pharmgkb | rs80359672 |
gwascentral | rs80359672 |
openSNP | rs80359672 |
23andMe | rs80359672 |
SNPshot | rs80359672 |
SNPdbe | rs80359672 |
MSV3d | rs80359672 |
GWAS Ctlg | rs80359672 |
Max Magnitude | 6 |
rs80359672, also known as 7901delAG, c.7673_7674delAG and p.Glu2558Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359672(-;-) |
Alt | rs80359672(-;-) |
Reference | Rs80359672(AG;AG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32931934_32931935delAG |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000113805.5, RCV000131089.3, RCV000257916.3, RCV000461632.1, RCV000485798.1, |