rs142951029

plus

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

Make rs142951029(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

16490519

Gene

CALR3

is a	snp
is	mentioned by
dbSNP	rs142951029
dbSNP (classic)	rs142951029
ClinGen	rs142951029
ebi	rs142951029
HLI	rs142951029
Exac	rs142951029
Gnomad	rs142951029
Varsome	rs142951029
LitVar	rs142951029
Map	rs142951029
PheGenI	rs142951029
Biobank	rs142951029
1000 genomes	rs142951029
hgdp	rs142951029
ensembl	rs142951029
geneview	rs142951029
scholar	rs142951029
google	rs142951029
pharmgkb	rs142951029
gwascentral	rs142951029
openSNP	rs142951029
23andMe	rs142951029
SNPshot	rs142951029
SNPdbe	rs142951029
MSV3d	rs142951029
GWAS Ctlg	rs142951029

GMAF

0.0004591

Max Magnitude

1

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 23861362 ]

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 UniProtKB (protein)
CLNACC	RCV000023894.3, RCV000157136.1, RCV000172523.2,