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rs276174912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;CT) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174912(CT;CT)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379410
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174912
ebirs276174912
HLIrs276174912
Exacrs276174912
Varsomers276174912
Maprs276174912
PheGenIrs276174912
hapmaprs276174912
1000 genomesrs276174912
hgdprs276174912
ensemblrs276174912
gopubmedrs276174912
geneviewrs276174912
scholarrs276174912
googlers276174912
pharmgkbrs276174912
gwascentralrs276174912
openSNPrs276174912
23andMers276174912
23andMe allrs276174912
SNP Nexus

SNPshotrs276174912
SNPdbers276174912
MSV3drs276174912
GWAS Ctlgrs276174912
Max Magnitude6
rs276174912, also known as 9076delAinsCT, c.8848_8848delAinsCT and p.Lys2950?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174912(CT;CT)
Alt rs276174912(CT;CT)
Reference rs276174912(A;A)
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.32953547delAinsCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045641.2, RCV000114006.1,