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rs80357269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar


Make rs80357269(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091746
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357269
ebirs80357269
HLIrs80357269
Exacrs80357269
Varsomers80357269
Maprs80357269
PheGenIrs80357269
hapmaprs80357269
1000 genomesrs80357269
hgdprs80357269
ensemblrs80357269
gopubmedrs80357269
geneviewrs80357269
scholarrs80357269
googlers80357269
pharmgkbrs80357269
gwascentralrs80357269
openSNPrs80357269
23andMers80357269
23andMe allrs80357269
SNP Nexus

SNPshotrs80357269
SNPdbers80357269
MSV3drs80357269
GWAS Ctlgrs80357269
Max Magnitude6
rs80357269, also known as S1262X, c.3785C>A and p.Ser1262Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357269(A,T;A,T)
Alt rs80357269(A,T;A,T)
Reference rs80357269(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.41243763G>A; NC_000017.10:g.41243763G>T
CLNSRC ClinVar
CLNACC RCV000048334.2, RCV000112187.1, RCV000048333.2, RCV000112186.1,