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rs80357402

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357402(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092263
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357402
ebirs80357402
HLIrs80357402
Exacrs80357402
Varsomers80357402
Maprs80357402
PheGenIrs80357402
hapmaprs80357402
1000 genomesrs80357402
hgdprs80357402
ensemblrs80357402
gopubmedrs80357402
geneviewrs80357402
scholarrs80357402
googlers80357402
pharmgkbrs80357402
gwascentralrs80357402
openSNPrs80357402
23andMers80357402
23andMe allrs80357402
SNP Nexus

SNPshotrs80357402
SNPdbers80357402
MSV3drs80357402
GWAS Ctlgrs80357402
Max Magnitude6
rs80357402, also known as Q1090X, c.3268C>T and p.Gln1090Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357402(T;T)
Alt rs80357402(T;T)
Reference rs80357402(C;C)
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.41244280G>A
CLNSRC ClinVar
CLNACC RCV000048119.2, RCV000112042.1,