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rs80358735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358735(C;C)
Make rs80358735(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339462
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358735
ebirs80358735
HLIrs80358735
Exacrs80358735
Varsomers80358735
Maprs80358735
PheGenIrs80358735
hapmaprs80358735
1000 genomesrs80358735
hgdprs80358735
ensemblrs80358735
gopubmedrs80358735
geneviewrs80358735
scholarrs80358735
googlers80358735
pharmgkbrs80358735
gwascentralrs80358735
openSNPrs80358735
23andMers80358735
23andMe allrs80358735
SNP Nexus

SNPshotrs80358735
SNPdbers80358735
MSV3drs80358735
GWAS Ctlgrs80358735
Max Magnitude6
rs80358735, also known as E1703X, c.5107G>T and p.Glu1703Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358735(C,T;C,T)
Alt rs80358735(C,T;C,T)
Reference rs80358735(G;G)
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.32913599G>C; NC_000013.10:g.32913599G>T
CLNSRC ClinVar
CLNACC RCV000044557.2, RCV000113380.1, RCV000044558.2, RCV000113381.1,