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rs80357456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357456(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091456
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357456
ebirs80357456
HLIrs80357456
Exacrs80357456
Varsomers80357456
Maprs80357456
PheGenIrs80357456
hapmaprs80357456
1000 genomesrs80357456
hgdprs80357456
ensemblrs80357456
gopubmedrs80357456
geneviewrs80357456
scholarrs80357456
googlers80357456
pharmgkbrs80357456
gwascentralrs80357456
openSNPrs80357456
23andMers80357456
23andMe allrs80357456
SNP Nexus

SNPshotrs80357456
SNPdbers80357456
MSV3drs80357456
GWAS Ctlgrs80357456
Max Magnitude6
rs80357456, also known as Q1359X, c.4075C>T and p.Gln1359Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357456(G,T;G,T)
Alt rs80357456(G,T;G,T)
Reference rs80357456(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.41243473G>A; NC_000017.10:g.41243473G>C
CLNSRC ClinVar
CLNACC RCV000048436.2, RCV000112239.1, RCV000031144.3,