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rs80357346

From SNPedia

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


Make rs80357346(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094239
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357346
ebirs80357346
HLIrs80357346
Exacrs80357346
Varsomers80357346
Maprs80357346
PheGenIrs80357346
hapmaprs80357346
1000 genomesrs80357346
hgdprs80357346
ensemblrs80357346
gopubmedrs80357346
geneviewrs80357346
scholarrs80357346
googlers80357346
pharmgkbrs80357346
gwascentralrs80357346
openSNPrs80357346
23andMers80357346
23andMe allrs80357346
SNP Nexus

SNPshotrs80357346
SNPdbers80357346
MSV3drs80357346
GWAS Ctlgrs80357346
Max Magnitude6
rs80357346, also known as L431X, c.1292T>G and p.Leu431Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357346(G;G)
Alt rs80357346(G;G)
Reference rs80357346(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.41246256A>C
CLNSRC ClinVar
CLNACC RCV000047405.2, RCV000111583.1,