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rs80358652

From SNPedia

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


Make rs80358652(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338356
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358652
ebirs80358652
HLIrs80358652
Exacrs80358652
Varsomers80358652
Maprs80358652
PheGenIrs80358652
hapmaprs80358652
1000 genomesrs80358652
hgdprs80358652
ensemblrs80358652
gopubmedrs80358652
geneviewrs80358652
scholarrs80358652
googlers80358652
pharmgkbrs80358652
gwascentralrs80358652
openSNPrs80358652
23andMers80358652
23andMe allrs80358652
SNP Nexus

SNPshotrs80358652
SNPdbers80358652
MSV3drs80358652
GWAS Ctlgrs80358652
Max Magnitude6
rs80358652, also known as L1334X, c.4001T>A and p.Leu1334Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358652(A;A)
Alt rs80358652(A;A)
Reference rs80358652(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.32912493T>A
CLNSRC ClinVar
CLNACC RCV000044330.2, RCV000113257.1,