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rs80357071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Normal
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357071(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43090981
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357071
ClinGenrs80357071
ebirs80357071
HLIrs80357071
Exacrs80357071
Varsomers80357071
Maprs80357071
PheGenIrs80357071
hapmaprs80357071
1000 genomesrs80357071
hgdprs80357071
ensemblrs80357071
gopubmedrs80357071
geneviewrs80357071
scholarrs80357071
googlers80357071
pharmgkbrs80357071
gwascentralrs80357071
openSNPrs80357071
23andMers80357071
23andMe allrs80357071
SNP Nexus

SNPshotrs80357071
SNPdbers80357071
MSV3drs80357071
GWAS Ctlgrs80357071
Max Magnitude6
rs80357071, also known as S1383X, c.4148C>G and p.Ser1383Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357071(G;G)
Alt rs80357071(G;G)
Reference Rs80357071(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41242998G>C
CLNSRC ClinVar
CLNACC RCV000048458.2, RCV000112270.3, RCV000213696.1,