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rs80357018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357018(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092131
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357018
ebirs80357018
HLIrs80357018
Exacrs80357018
Varsomers80357018
Maprs80357018
PheGenIrs80357018
hapmaprs80357018
1000 genomesrs80357018
hgdprs80357018
ensemblrs80357018
gopubmedrs80357018
geneviewrs80357018
scholarrs80357018
googlers80357018
pharmgkbrs80357018
gwascentralrs80357018
openSNPrs80357018
23andMers80357018
23andMe allrs80357018
SNP Nexus

SNPshotrs80357018
SNPdbers80357018
MSV3drs80357018
GWAS Ctlgrs80357018
Max Magnitude6
rs80357018, also known as E1134X, c.3400G>T and p.Glu1134Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357018(T;T)
Alt rs80357018(T;T)
Reference rs80357018(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41244148C>A
CLNSRC ClinVar
CLNACC RCV000031110.6, RCV000048178.4, RCV000203638.2,