rs276174824
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs276174824(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32336958 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs276174824 |
dbSNP (classic) | rs276174824 |
ClinGen | rs276174824 |
ebi | rs276174824 |
HLI | rs276174824 |
Exac | rs276174824 |
Gnomad | rs276174824 |
Varsome | rs276174824 |
LitVar | rs276174824 |
Map | rs276174824 |
PheGenI | rs276174824 |
Biobank | rs276174824 |
1000 genomes | rs276174824 |
hgdp | rs276174824 |
ensembl | rs276174824 |
geneview | rs276174824 |
scholar | rs276174824 |
rs276174824 | |
pharmgkb | rs276174824 |
gwascentral | rs276174824 |
openSNP | rs276174824 |
23andMe | rs276174824 |
SNPshot | rs276174824 |
SNPdbe | rs276174824 |
MSV3d | rs276174824 |
GWAS Ctlg | rs276174824 |
Max Magnitude | 6 |
rs276174824, also known as 2831delC, c.2603_2603delC and p.Thr868Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs276174824(-;-) |
Alt | rs276174824(-;-) |
Reference | Rs276174824(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32911095delC |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044024.2, RCV000113069.3, RCV000167161.1, |