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rs80356864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356864(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106508
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356864
ebirs80356864
HLIrs80356864
Exacrs80356864
Varsomers80356864
Maprs80356864
PheGenIrs80356864
hapmaprs80356864
1000 genomesrs80356864
hgdprs80356864
ensemblrs80356864
gopubmedrs80356864
geneviewrs80356864
scholarrs80356864
googlers80356864
pharmgkbrs80356864
gwascentralrs80356864
openSNPrs80356864
23andMers80356864
23andMe allrs80356864
SNP Nexus

SNPshotrs80356864
SNPdbers80356864
MSV3drs80356864
GWAS Ctlgrs80356864
Max Magnitude6
rs80356864, also known as Q54X, c.160C>T and p.Gln54Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356864(A,T;A,T)
Alt rs80356864(A,T;A,T)
Reference rs80356864(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41258525G>A; NC_000017.10:g.41258525G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000047539.2, RCV000111916.1, RCV000131840.2, RCV000077076.2,