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rs80358632

From SNPedia

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


Make rs80358632(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338236
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358632
ebirs80358632
HLIrs80358632
Exacrs80358632
Varsomers80358632
Maprs80358632
PheGenIrs80358632
hapmaprs80358632
1000 genomesrs80358632
hgdprs80358632
ensemblrs80358632
gopubmedrs80358632
geneviewrs80358632
scholarrs80358632
googlers80358632
pharmgkbrs80358632
gwascentralrs80358632
openSNPrs80358632
23andMers80358632
23andMe allrs80358632
SNP Nexus

SNPshotrs80358632
SNPdbers80358632
MSV3drs80358632
GWAS Ctlgrs80358632
Max Magnitude6
rs80358632, also known as L1294X, c.3881T>A and p.Leu1294Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358632(A;A)
Alt rs80358632(A;A)
Reference rs80358632(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.32912373T>A
CLNSRC ClinVar
CLNACC RCV000044296.2, RCV000113235.1,