rs80359677
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;GA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | common in clinvar |
Make rs80359677(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32331012 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359677 |
dbSNP (classic) | rs80359677 |
ClinGen | rs80359677 |
ebi | rs80359677 |
HLI | rs80359677 |
Exac | rs80359677 |
Gnomad | rs80359677 |
Varsome | rs80359677 |
LitVar | rs80359677 |
Map | rs80359677 |
PheGenI | rs80359677 |
Biobank | rs80359677 |
1000 genomes | rs80359677 |
hgdp | rs80359677 |
ensembl | rs80359677 |
geneview | rs80359677 |
scholar | rs80359677 |
rs80359677 | |
pharmgkb | rs80359677 |
gwascentral | rs80359677 |
openSNP | rs80359677 |
23andMe | rs80359677 |
SNPshot | rs80359677 |
SNPdbe | rs80359677 |
MSV3d | rs80359677 |
GWAS Ctlg | rs80359677 |
Merged from | Rs80359680 |
Max Magnitude | 6 |
rs80359677, also known as 1003delAG, c.775_776delAG and p.Arg259=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359677(-;-) rs80359677(GA;GA) |
Alt | rs80359677(-;-) rs80359677(GA;GA) |
Reference | Rs80359677(AG;AG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32905152_32905153delGA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031701.7, RCV000045311.5, RCV000131854.3, RCV000203632.3, |