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rs80358710

From SNPedia

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


Make rs80358710(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339214
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358710
ebirs80358710
HLIrs80358710
Exacrs80358710
Varsomers80358710
Maprs80358710
PheGenIrs80358710
hapmaprs80358710
1000 genomesrs80358710
hgdprs80358710
ensemblrs80358710
gopubmedrs80358710
geneviewrs80358710
scholarrs80358710
googlers80358710
pharmgkbrs80358710
gwascentralrs80358710
openSNPrs80358710
23andMers80358710
23andMe allrs80358710
SNP Nexus

SNPshotrs80358710
SNPdbers80358710
MSV3drs80358710
GWAS Ctlgrs80358710
Max Magnitude6
rs80358710, also known as L1620X, c.4859T>G and p.Leu1620Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358710(G;G)
Alt rs80358710(G;G)
Reference rs80358710(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.32913351T>G
CLNSRC ClinVar
CLNACC RCV000044509.2, RCV000113353.1,