Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913624
rs121913624
0.740 GeneticVariation BEFREE Hypertrophic cardiomyopathy R403Q mutation in rabbit β-myosin reduces contractile function at the molecular and myofibrillar levels. 30322937

2018

dbSNP: rs121913624
rs121913624
0.740 GeneticVariation BEFREE An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 38-year-old female patient with HCM in which genetic testing identified the well-known pathogenic p.Arg403Gln mutation in myosin heavy chain 7. iPSCs express pluripotency markers, demonstrate trilineage differentiation capacity, and display a normal 46,XX female karyotype. 30508693

2018

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation. 24928957

2014

dbSNP: rs121913624
rs121913624
0.740 GeneticVariation BEFREE Therefore, increased tension cost might contribute to HCM disease in patients carrying the R403Q mutation. 24928957

2014

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes? 24268868

2013

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences. 23580644

2013

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy. 23751935

2013

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy. 22735528

2012

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy. 22213221

2012

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. 17351073

2007

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface. 17987111

2007

dbSNP: rs121913624
rs121913624
0.740 GeneticVariation BEFREE The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by a malignant form of HCM. 15386449

2004

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. 12084606

2002

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. 10882745

2000

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level. 11227787

2000

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations. 10725281

2000

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. 10764406

2000

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation. 10086390

1999

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. 9826622

1998

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR A mouse model of familial hypertrophic cardiomyopathy. 8614836

1996

dbSNP: rs121913624
rs121913624
T 0.740 CausalMutation CLINVAR Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations. 7789380

1995