rs276174843
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;CT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(CT;CT) | 0 | common in clinvar |
Make rs276174843(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32338518 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs276174843 |
dbSNP (classic) | rs276174843 |
ClinGen | rs276174843 |
ebi | rs276174843 |
HLI | rs276174843 |
Exac | rs276174843 |
Gnomad | rs276174843 |
Varsome | rs276174843 |
LitVar | rs276174843 |
Map | rs276174843 |
PheGenI | rs276174843 |
Biobank | rs276174843 |
1000 genomes | rs276174843 |
hgdp | rs276174843 |
ensembl | rs276174843 |
geneview | rs276174843 |
scholar | rs276174843 |
rs276174843 | |
pharmgkb | rs276174843 |
gwascentral | rs276174843 |
openSNP | rs276174843 |
23andMe | rs276174843 |
SNPshot | rs276174843 |
SNPdbe | rs276174843 |
MSV3d | rs276174843 |
GWAS Ctlg | rs276174843 |
Max Magnitude | 6 |
rs276174843, also known as 4391delCTinsA, c.4163_4164delCTinsA and p.Thr1388Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs276174843(A;A) |
Alt | rs276174843(A;A) |
Reference | Rs276174843(CT;CT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 not provided Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32912655_32912656delCTinsA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031466.6, RCV000044363.5, RCV000203655.2, |