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rs80357006

From SNPedia

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


Make rs80357006(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092274
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357006
ebirs80357006
HLIrs80357006
Exacrs80357006
Varsomers80357006
Maprs80357006
PheGenIrs80357006
hapmaprs80357006
1000 genomesrs80357006
hgdprs80357006
ensemblrs80357006
gopubmedrs80357006
geneviewrs80357006
scholarrs80357006
googlers80357006
pharmgkbrs80357006
gwascentralrs80357006
openSNPrs80357006
23andMers80357006
23andMe allrs80357006
SNP Nexus

SNPshotrs80357006
SNPdbers80357006
MSV3drs80357006
GWAS Ctlgrs80357006
Max Magnitude6
rs80357006, also known as L1086X, c.3257T>A and p.Leu1086Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357006(A,C,G;A,C,G)
Alt rs80357006(A,C,G;A,C,G)
Reference rs80357006(T;T)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244291A>C; NC_000017.10:g.41244291A>G; NC_000017.10:g.41244291A>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048114.3, RCV000083194.3, RCV000131910.2, RCV000048113.2, RCV000112038.1, RCV000048112.2, RCV000112037.1,