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rs80358717

From SNPedia

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


Make rs80358717(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326257
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358717
ebirs80358717
HLIrs80358717
Exacrs80358717
Varsomers80358717
Maprs80358717
PheGenIrs80358717
hapmaprs80358717
1000 genomesrs80358717
hgdprs80358717
ensemblrs80358717
gopubmedrs80358717
geneviewrs80358717
scholarrs80358717
googlers80358717
pharmgkbrs80358717
gwascentralrs80358717
openSNPrs80358717
23andMers80358717
23andMe allrs80358717
SNP Nexus

SNPshotrs80358717
SNPdbers80358717
MSV3drs80358717
GWAS Ctlgrs80358717
Max Magnitude6
rs80358717, also known as L164X, c.491T>A and p.Leu164Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358717(A;A)
Alt rs80358717(A;A)
Reference rs80358717(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.32900394T>A
CLNSRC ClinVar
CLNACC RCV000044521.2, RCV000113680.1,