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rs80357372

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357372(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104148
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357372
ebirs80357372
HLIrs80357372
Exacrs80357372
Varsomers80357372
Maprs80357372
PheGenIrs80357372
hapmaprs80357372
1000 genomesrs80357372
hgdprs80357372
ensemblrs80357372
gopubmedrs80357372
geneviewrs80357372
scholarrs80357372
googlers80357372
pharmgkbrs80357372
gwascentralrs80357372
openSNPrs80357372
23andMers80357372
23andMe allrs80357372
SNP Nexus

SNPshotrs80357372
SNPdbers80357372
MSV3drs80357372
GWAS Ctlgrs80357372
Max Magnitude6
rs80357372, also known as Q139X, c.415C>T and p.Gln139Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357372(T;T)
Alt rs80357372(T;T)
Reference rs80357372(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.41256165G>A
CLNSRC ClinVar
CLNACC RCV000048460.2, RCV000112573.1,