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rs80357267

From SNPedia

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


Make rs80357267(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093615
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357267
ebirs80357267
HLIrs80357267
Exacrs80357267
Varsomers80357267
Maprs80357267
PheGenIrs80357267
hapmaprs80357267
1000 genomesrs80357267
hgdprs80357267
ensemblrs80357267
gopubmedrs80357267
geneviewrs80357267
scholarrs80357267
googlers80357267
pharmgkbrs80357267
gwascentralrs80357267
openSNPrs80357267
23andMers80357267
23andMe allrs80357267
SNP Nexus

SNPshotrs80357267
SNPdbers80357267
MSV3drs80357267
GWAS Ctlgrs80357267
Max Magnitude6
rs80357267, also known as L639X, c.1916T>A and p.Leu639Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357267(A;A)
Alt rs80357267(A;A)
Reference rs80357267(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41245632A>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000047640.4, RCV000083175.4, RCV000131894.2, RCV000212165.1,