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rs276174843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;CT) 6 BRCA2 variant considered pathogenic for breast cancer
(CT;CT) 0 common in clinvar


Make rs276174843(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338518
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174843
ebirs276174843
HLIrs276174843
Exacrs276174843
Varsomers276174843
Maprs276174843
PheGenIrs276174843
hapmaprs276174843
1000 genomesrs276174843
hgdprs276174843
ensemblrs276174843
gopubmedrs276174843
geneviewrs276174843
scholarrs276174843
googlers276174843
pharmgkbrs276174843
gwascentralrs276174843
openSNPrs276174843
23andMers276174843
23andMe allrs276174843
SNP Nexus

SNPshotrs276174843
SNPdbers276174843
MSV3drs276174843
GWAS Ctlgrs276174843
Max Magnitude6
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 RCV000031466.5, RCV000044363.5, RCV000203655.1,