rs276174871
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(GT;GT) | 0 | common in clinvar |
Make rs276174871(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340680 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs276174871 |
dbSNP (classic) | rs276174871 |
ClinGen | rs276174871 |
ebi | rs276174871 |
HLI | rs276174871 |
Exac | rs276174871 |
Gnomad | rs276174871 |
Varsome | rs276174871 |
LitVar | rs276174871 |
Map | rs276174871 |
PheGenI | rs276174871 |
Biobank | rs276174871 |
1000 genomes | rs276174871 |
hgdp | rs276174871 |
ensembl | rs276174871 |
geneview | rs276174871 |
scholar | rs276174871 |
rs276174871 | |
pharmgkb | rs276174871 |
gwascentral | rs276174871 |
openSNP | rs276174871 |
23andMe | rs276174871 |
SNPshot | rs276174871 |
SNPdbe | rs276174871 |
MSV3d | rs276174871 |
GWAS Ctlg | rs276174871 |
Max Magnitude | 6 |
rs276174871, also known as c.6323_6324delGT, 6553delGT, c.6325_6326delGT and p.Val2109Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs276174871(-;-) |
Alt | rs276174871(-;-) |
Reference | Rs276174871(GT;GT) |
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.32914817_32914818delGT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044914.2, RCV000113574.3, |