Condition: Cardiomyopathy, Familial Hypertrophic, 11
rs121912673 in
ACTC1;LOC101928174 gene and
Cardiomyopathy, Familial Hypertrophic, 11
PMID 9563954 1998 Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
PMID 24736382 2014 Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies.
PMID 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.
PMID 22590617 2012 Subdomain location of mutations in cardiac actin correlate with type of functional change.
PMID 17611253 2007 Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.
PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
PMID 21622575 2011 Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.
PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
PMID 16267253 2005 Gene mutations in apical hypertrophic cardiomyopathy.
PMID 16611632 2006 Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.
PMID 10966831 2000 Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
rs121912675 in
LOC101928174;ACTC1 gene and
Cardiomyopathy, Familial Hypertrophic, 11
PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 14729850 2004 Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.
PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
PMID 10966831 2000 Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.
PMID 10330430 1999 Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).