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rs80357298

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80357298(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093426
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357298
ebirs80357298
HLIrs80357298
Exacrs80357298
Varsomers80357298
Maprs80357298
PheGenIrs80357298
hapmaprs80357298
1000 genomesrs80357298
hgdprs80357298
ensemblrs80357298
gopubmedrs80357298
geneviewrs80357298
scholarrs80357298
googlers80357298
pharmgkbrs80357298
gwascentralrs80357298
openSNPrs80357298
23andMers80357298
23andMe allrs80357298
SNP Nexus

SNPshotrs80357298
SNPdbers80357298
MSV3drs80357298
GWAS Ctlgrs80357298
Max Magnitude6
rs80357298, also known as L702X, c.2105T>G and p.Leu702Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357298(G;G)
Alt rs80357298(G;G)
Reference rs80357298(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245443A>C
CLNSRC ClinVar
CLNACC RCV000047710.2, RCV000111771.1,