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rs80357011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357011(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082575
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357011
ebirs80357011
HLIrs80357011
Exacrs80357011
Varsomers80357011
Maprs80357011
PheGenIrs80357011
hapmaprs80357011
1000 genomesrs80357011
hgdprs80357011
ensemblrs80357011
gopubmedrs80357011
geneviewrs80357011
scholarrs80357011
googlers80357011
pharmgkbrs80357011
gwascentralrs80357011
openSNPrs80357011
23andMers80357011
23andMe allrs80357011
SNP Nexus

SNPshotrs80357011
SNPdbers80357011
MSV3drs80357011
GWAS Ctlgrs80357011
Max Magnitude6
rs80357011, also known as Q1396X, c.4186C>T and p.Gln1396Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357011(A,T;A,T)
Alt rs80357011(A,T;A,T)
Reference rs80357011(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41234592G>A; NC_000017.10:g.41234592G>T
CLNSRC ClinVar
CLNACC RCV000048481.2, RCV000112291.1, RCV000159988.2,