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rs80357421

From SNPedia

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


Make rs80357421(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092192
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357421
ebirs80357421
HLIrs80357421
Exacrs80357421
Varsomers80357421
Maprs80357421
PheGenIrs80357421
hapmaprs80357421
1000 genomesrs80357421
hgdprs80357421
ensemblrs80357421
gopubmedrs80357421
geneviewrs80357421
scholarrs80357421
googlers80357421
pharmgkbrs80357421
gwascentralrs80357421
openSNPrs80357421
23andMers80357421
23andMe allrs80357421
SNP Nexus

SNPshotrs80357421
SNPdbers80357421
MSV3drs80357421
GWAS Ctlgrs80357421
Max Magnitude6
rs80357421, also known as Y1113X, c.3339T>G and p.Tyr1113Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357421(G;G)
Alt rs80357421(G;G)
Reference rs80357421(T;T)
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.41244209A>C
CLNSRC ClinVar
CLNACC RCV000048154.2, RCV000112072.2,