Gene: DES ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767743962
rs767743962
DES
0.010 GeneticVariation BEFREE A novel mutation (c.679 C>T /p.R227C) in exon 3 of DES was identified and cosegregated with the affected members of a Chinese family with isolated DCM phenotypes (left ventricle and left atrial diameters). 28171858

2018
dbSNP: rs397516695
rs397516695
DES
0.010 GeneticVariation BEFREE Here, we present a novel heterozygous DES missense variant (c.407C>T; p.L136P) identified by next generation sequencing in a DCM patient. 26724190

2016
dbSNP: rs1368507241
rs1368507241
DES
0.010 GeneticVariation BEFREE In this paper, we report a novel heterozygous mutation of A285V codon conversion on exon 4 of the desmin (DES), using whole exome sequencing (WES) in an isolated proband with documented dilated cardiomyopathy (DCM). 23300193

2013
dbSNP: rs61726467
rs61726467
DES
0.010 GeneticVariation BEFREE A novel E413K mutation in desmin caused autosomal dominant RCM rather than DCM. 16890305

2007
dbSNP: rs121913002
rs121913002
DES
0.010 GeneticVariation BEFREE A novel missense mutation of desmin, Ile451Met, was identified as the genetic cause of idiopathic dilated cardiomyopathy. 10430757

1999