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rs80357145

From SNPedia

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


Make rs80357145(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092292
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357145
ebirs80357145
HLIrs80357145
Exacrs80357145
Varsomers80357145
Maprs80357145
PheGenIrs80357145
hapmaprs80357145
1000 genomesrs80357145
hgdprs80357145
ensemblrs80357145
gopubmedrs80357145
geneviewrs80357145
scholarrs80357145
googlers80357145
pharmgkbrs80357145
gwascentralrs80357145
openSNPrs80357145
23andMers80357145
23andMe allrs80357145
SNP Nexus

SNPshotrs80357145
SNPdbers80357145
MSV3drs80357145
GWAS Ctlgrs80357145
Max Magnitude6
rs80357145, also known as L1080X, c.3239T>A and p.Leu1080Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357145(A;A)
Alt rs80357145(A;A)
Reference rs80357145(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.41244309A>T
CLNSRC ClinVar
CLNACC RCV000048108.2, RCV000112034.2,