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rs80357162

From SNPedia

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


Make rs80357162(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091842
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357162
ebirs80357162
HLIrs80357162
Exacrs80357162
Varsomers80357162
Maprs80357162
PheGenIrs80357162
hapmaprs80357162
1000 genomesrs80357162
hgdprs80357162
ensemblrs80357162
gopubmedrs80357162
geneviewrs80357162
scholarrs80357162
googlers80357162
pharmgkbrs80357162
gwascentralrs80357162
openSNPrs80357162
23andMers80357162
23andMe allrs80357162
SNP Nexus

SNPshotrs80357162
SNPdbers80357162
MSV3drs80357162
GWAS Ctlgrs80357162
Max Magnitude6
rs80357162, also known as L1230X, c.3689T>G and p.Leu1230Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357162(G;G)
Alt rs80357162(G;G)
Reference rs80357162(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.41243859A>C
CLNSRC ClinVar
CLNACC RCV000048281.2, RCV000112154.1,