rs80359641
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CCAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(ACCA;ACCA) | 0 | common in clinvar |
(CCAA;CCAA) | 0 | common in clinvar |
Make rs80359641(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32355061 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359641 |
dbSNP (classic) | rs80359641 |
ClinGen | rs80359641 |
ebi | rs80359641 |
HLI | rs80359641 |
Exac | rs80359641 |
Gnomad | rs80359641 |
Varsome | rs80359641 |
LitVar | rs80359641 |
Map | rs80359641 |
PheGenI | rs80359641 |
Biobank | rs80359641 |
1000 genomes | rs80359641 |
hgdp | rs80359641 |
ensembl | rs80359641 |
geneview | rs80359641 |
scholar | rs80359641 |
rs80359641 | |
pharmgkb | rs80359641 |
gwascentral | rs80359641 |
openSNP | rs80359641 |
23andMe | rs80359641 |
SNPshot | rs80359641 |
SNPdbe | rs80359641 |
MSV3d | rs80359641 |
GWAS Ctlg | rs80359641 |
Max Magnitude | 6 |
rs80359641, also known as 7436del4, c.7208_7211delCCAA and p.Thr2403_Lys2404?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359641(-;-) Rs80359641(ACCA;ACCA) |
Alt | rs80359641(-;-) Rs80359641(ACCA;ACCA) |
Reference | Rs80359641(CCAA;CCAA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32929198_32929201delCCAA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000077399.7, RCV000215912.1, RCV000257918.3, |