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rs80356992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356992(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074394
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356992
ebirs80356992
HLIrs80356992
Exacrs80356992
Varsomers80356992
Maprs80356992
PheGenIrs80356992
hapmaprs80356992
1000 genomesrs80356992
hgdprs80356992
ensemblrs80356992
gopubmedrs80356992
geneviewrs80356992
scholarrs80356992
googlers80356992
pharmgkbrs80356992
gwascentralrs80356992
openSNPrs80356992
23andMers80356992
23andMe allrs80356992
SNP Nexus

SNPshotrs80356992
SNPdbers80356992
MSV3drs80356992
GWAS Ctlgrs80356992
Max Magnitude6
rs80356992, also known as Q1538X, c.4612C>T and p.Gln1538Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356992(T;T)
Alt rs80356992(T;T)
Reference rs80356992(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41226411G>A
CLNSRC ClinVar
CLNACC RCV000048606.3, RCV000077579.4,