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rs80359151

From SNPedia

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


Make rs80359151(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379795
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359151
ebirs80359151
HLIrs80359151
Exacrs80359151
Varsomers80359151
Maprs80359151
PheGenIrs80359151
hapmaprs80359151
1000 genomesrs80359151
hgdprs80359151
ensemblrs80359151
gopubmedrs80359151
geneviewrs80359151
scholarrs80359151
googlers80359151
pharmgkbrs80359151
gwascentralrs80359151
openSNPrs80359151
23andMers80359151
23andMe allrs80359151
SNP Nexus

SNPshotrs80359151
SNPdbers80359151
MSV3drs80359151
GWAS Ctlgrs80359151
Max Magnitude6
rs80359151, also known as L3000X, c.8999T>A and p.Leu3000Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359151(A;A)
Alt rs80359151(A;A)
Reference rs80359151(T;T)
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.32953932T>A
CLNSRC ClinVar
CLNACC RCV000045684.2, RCV000114029.1,