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rs276174838

From SNPedia

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


Make rs276174838(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338294
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174838
ebirs276174838
HLIrs276174838
Exacrs276174838
Varsomers276174838
Maprs276174838
PheGenIrs276174838
hapmaprs276174838
1000 genomesrs276174838
hgdprs276174838
ensemblrs276174838
gopubmedrs276174838
geneviewrs276174838
scholarrs276174838
googlers276174838
pharmgkbrs276174838
gwascentralrs276174838
openSNPrs276174838
23andMers276174838
23andMe allrs276174838
SNP Nexus

SNPshotrs276174838
SNPdbers276174838
MSV3drs276174838
GWAS Ctlgrs276174838
Max Magnitude6
rs276174838, also known as 4167delC, c.3939_3939delC and p.Tyr1313Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174838(;)
Alt rs276174838(;)
Reference rs276174838(C;C)
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.32912431delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044318.2, RCV000113247.1,