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rs80357443

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357443(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115775
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357443
ebirs80357443
HLIrs80357443
Exacrs80357443
Varsomers80357443
Maprs80357443
PheGenIrs80357443
hapmaprs80357443
1000 genomesrs80357443
hgdprs80357443
ensemblrs80357443
gopubmedrs80357443
geneviewrs80357443
scholarrs80357443
googlers80357443
pharmgkbrs80357443
gwascentralrs80357443
openSNPrs80357443
23andMers80357443
23andMe allrs80357443
SNP Nexus

SNPshotrs80357443
SNPdbers80357443
MSV3drs80357443
GWAS Ctlgrs80357443
Max Magnitude6
rs80357443, also known as E29X, c.85G>T and p.Glu29Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357443(T;T)
Alt rs80357443(T;T)
Reference rs80357443(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41267792C>A
CLNSRC ClinVar
CLNACC RCV000031288.4, RCV000049175.2,