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rs80356952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356952(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093901
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356952
ebirs80356952
HLIrs80356952
Exacrs80356952
Varsomers80356952
Maprs80356952
PheGenIrs80356952
hapmaprs80356952
1000 genomesrs80356952
hgdprs80356952
ensemblrs80356952
gopubmedrs80356952
geneviewrs80356952
scholarrs80356952
googlers80356952
pharmgkbrs80356952
gwascentralrs80356952
openSNPrs80356952
23andMers80356952
23andMe allrs80356952
SNP Nexus

SNPshotrs80356952
SNPdbers80356952
MSV3drs80356952
GWAS Ctlgrs80356952
Max Magnitude6
rs80356952, also known as Q544X, c.1630C>T and p.Gln544Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356952(T;T)
Alt rs80356952(T;T)
Reference rs80356952(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.41245918G>A
CLNSRC ClinVar
CLNACC RCV000047545.2, RCV000111656.1,