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rs80357424

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357424(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092353
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357424
ebirs80357424
HLIrs80357424
Exacrs80357424
Varsomers80357424
Maprs80357424
PheGenIrs80357424
hapmaprs80357424
1000 genomesrs80357424
hgdprs80357424
ensemblrs80357424
gopubmedrs80357424
geneviewrs80357424
scholarrs80357424
googlers80357424
pharmgkbrs80357424
gwascentralrs80357424
openSNPrs80357424
23andMers80357424
23andMe allrs80357424
SNP Nexus

SNPshotrs80357424
SNPdbers80357424
MSV3drs80357424
GWAS Ctlgrs80357424
Max Magnitude6
rs80357424, also known as E1060X, c.3178G>T and p.Glu1060Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357424(C,T;C,T)
Alt rs80357424(C,T;C,T)
Reference rs80357424(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41244370C>A; NC_000017.10:g.41244370C>G
CLNSRC ClinVar
CLNACC RCV000048092.4, RCV000077540.4, RCV000212171.1, RCV000238712.1,