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rs41293477

From SNPedia

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


Make rs41293477(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337513
GeneBRCA2
is asnp
is mentioned by
dbSNPrs41293477
ebirs41293477
HLIrs41293477
Exacrs41293477
Varsomers41293477
Maprs41293477
PheGenIrs41293477
hapmaprs41293477
1000 genomesrs41293477
hgdprs41293477
ensemblrs41293477
gopubmedrs41293477
geneviewrs41293477
scholarrs41293477
googlers41293477
pharmgkbrs41293477
gwascentralrs41293477
openSNPrs41293477
23andMers41293477
23andMe allrs41293477
SNP Nexus

SNPshotrs41293477
SNPdbers41293477
MSV3drs41293477
GWAS Ctlgrs41293477
Max Magnitude6

rs41293477, also known as L1053X, c.3158T>G, 3386T>G and p.Leu1053Ter, is a variant in the BRCA2 gene. The rare variant allele is considered pathogenic for breast cancer by three submitters to ClinVar.


ClinVar
Risk rs41293477(G;G)
Alt rs41293477(G;G)
Reference rs41293477(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32911650T>G
CLNSRC ClinVar
CLNACC RCV000031401.5, RCV000044127.2, RCV000162916.1,