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rs276174815

From SNPedia

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


Make rs276174815(AA;AA)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333332
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174815
ebirs276174815
HLIrs276174815
Exacrs276174815
Varsomers276174815
Maprs276174815
PheGenIrs276174815
hapmaprs276174815
1000 genomesrs276174815
hgdprs276174815
ensemblrs276174815
gopubmedrs276174815
geneviewrs276174815
scholarrs276174815
googlers276174815
pharmgkbrs276174815
gwascentralrs276174815
openSNPrs276174815
23andMers276174815
23andMe allrs276174815
SNP Nexus

SNPshotrs276174815
SNPdbers276174815
MSV3drs276174815
GWAS Ctlgrs276174815
Max Magnitude6
rs276174815, also known as 2082delCinsAA, c.1854_1854delCinsAA and p.Ala618?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174815(AA;AA)
Alt rs276174815(AA;AA)
Reference rs276174815(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.32907469delCinsAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043910.2, RCV000077270.3,