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rs142951029

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 1 likely to be benign
(T;T) 0 common in clinvar


Make rs142951029(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position16490519
GeneCALR3
is asnp
is mentioned by
dbSNPrs142951029
ebirs142951029
HLIrs142951029
Exacrs142951029
Varsomers142951029
Maprs142951029
PheGenIrs142951029
hapmaprs142951029
1000 genomesrs142951029
hgdprs142951029
ensemblrs142951029
gopubmedrs142951029
geneviewrs142951029
scholarrs142951029
googlers142951029
pharmgkbrs142951029
gwascentralrs142951029
openSNPrs142951029
23andMers142951029
23andMe allrs142951029
SNP Nexus

SNPshotrs142951029
SNPdbers142951029
MSV3drs142951029
GWAS Ctlgrs142951029
GMAF0.0004591
Max Magnitude1

rs142951029, also known as c.245A>G, p.Lys82Arg and K82R, is a variant in the CALR3 gene on chromosome 19. This is a very rare variant, seen only 69 times out of 121142 alleles in ExAC, with 0 homozygotes observed and a MAF of 0.000568.

A (single) report published in 2007 concluded that the very rare rs142951029(C) variant led to Familial hypertrophic cardiomyopathy, type 19. Subsequent analyses have cast doubt on this conclusion, with a 2013 review concluding this variant is likely to be benign.[PMID 23861362OA-icon.png]

If you are aware of new evidence for or against the pathogenicity of this variant, please contact us.


ClinVar
Risk rs142951029(C;C)
Alt rs142951029(C;C)
Reference rs142951029(T;T)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 19 Arrhythmogenic right ventricular cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene CALR3
CLNDBN Familial hypertrophic cardiomyopathy 19 Arrhythmogenic right ventricular cardiomyopathy Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000019.9:g.16601330T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023894.3, RCV000157136.1, RCV000172523.2,