Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
T 0.700 CausalMutation CLINVAR Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. 24736382

2014
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
T 0.700 CausalMutation CLINVAR Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse. 21622575

2011
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
T 0.700 CausalMutation CLINVAR Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. 19799913

2010
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
T 0.700 CausalMutation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
T 0.700 CausalMutation CLINVAR The E101K mutation in the alpha-cardiac actin gene (ACTC) has been associated with apical hypertrophic cardiomyopathy (HCM). 17611253

2007
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
T 0.700 CausalMutation CLINVAR Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. 16611632

2006
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
T 0.700 CausalMutation CLINVAR Gene mutations in apical hypertrophic cardiomyopathy. 16267253

2005
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
T 0.700 CausalMutation CLINVAR Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 10966831

2000