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rs80357350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357350(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104928
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357350
ebirs80357350
HLIrs80357350
Exacrs80357350
Varsomers80357350
Maprs80357350
PheGenIrs80357350
hapmaprs80357350
1000 genomesrs80357350
hgdprs80357350
ensemblrs80357350
gopubmedrs80357350
geneviewrs80357350
scholarrs80357350
googlers80357350
pharmgkbrs80357350
gwascentralrs80357350
openSNPrs80357350
23andMers80357350
23andMe allrs80357350
SNP Nexus

SNPshotrs80357350
SNPdbers80357350
MSV3drs80357350
GWAS Ctlgrs80357350
Max Magnitude6
rs80357350, also known as Q81X, c.241C>T and p.Gln81Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357350(T;T)
Alt rs80357350(T;T)
Reference rs80357350(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.41256945G>A
CLNSRC ClinVar
CLNACC RCV000047834.2, RCV000112105.1,