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rs276174842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;TT) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174842(-;-)
Make rs276174842(TT;TT)
ReferenceGRCh38 38.1/142
Chromosome13
Position32338493
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174842
ebirs276174842
HLIrs276174842
Exacrs276174842
Varsomers276174842
Maprs276174842
PheGenIrs276174842
hapmaprs276174842
1000 genomesrs276174842
hgdprs276174842
ensemblrs276174842
gopubmedrs276174842
geneviewrs276174842
scholarrs276174842
googlers276174842
pharmgkbrs276174842
gwascentralrs276174842
openSNPrs276174842
23andMers276174842
23andMe allrs276174842
SNP Nexus

SNPshotrs276174842
SNPdbers276174842
MSV3drs276174842
GWAS Ctlgrs276174842
Max Magnitude6
rs276174842, also known as 4366insTT, c.4138_4139insTT and p.Ile1380?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174842(TT;TT)
Alt rs276174842(TT;TT)
Reference rs276174842(;)
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.32912631_32912632dupTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044359.2, RCV000113279.1, RCV000130775.2,