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rs80357262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357262(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091564
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357262
ebirs80357262
HLIrs80357262
Exacrs80357262
Varsomers80357262
Maprs80357262
PheGenIrs80357262
hapmaprs80357262
1000 genomesrs80357262
hgdprs80357262
ensemblrs80357262
gopubmedrs80357262
geneviewrs80357262
scholarrs80357262
googlers80357262
pharmgkbrs80357262
gwascentralrs80357262
openSNPrs80357262
23andMers80357262
23andMe allrs80357262
SNP Nexus

SNPshotrs80357262
SNPdbers80357262
MSV3drs80357262
GWAS Ctlgrs80357262
Max Magnitude6
rs80357262, also known as Q1323X, c.3967C>T and p.Gln1323Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357262(T;T)
Alt rs80357262(T;T)
Reference rs80357262(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.41243581G>A
CLNSRC ClinVar
CLNACC RCV000048393.2, RCV000083202.3,