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rs80357086

From SNPedia

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


Make rs80357086(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106480
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357086
ebirs80357086
HLIrs80357086
Exacrs80357086
Varsomers80357086
Maprs80357086
PheGenIrs80357086
hapmaprs80357086
1000 genomesrs80357086
hgdprs80357086
ensemblrs80357086
gopubmedrs80357086
geneviewrs80357086
scholarrs80357086
googlers80357086
pharmgkbrs80357086
gwascentralrs80357086
openSNPrs80357086
23andMers80357086
23andMe allrs80357086
SNP Nexus

SNPshotrs80357086
SNPdbers80357086
MSV3drs80357086
GWAS Ctlgrs80357086
Max Magnitude6
rs80357086, also known as L63X, c.188T>A and p.Leu63Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357086(A,C;A,C)
Alt rs80357086(A,C;A,C)
Reference rs80357086(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41258497A>G; NC_000017.10:g.41258497A>T
CLNSRC ClinVar
CLNACC RCV000047621.2, RCV000047620.2, RCV000077499.5, RCV000162847.1,