Variant: rs193922680 

    present in Gene: ACTC1;LOC101928174
    present in Chromosome: 15
    Position on Chromosome: 34793398
    Alleles of this Variant: C/T

rs193922680 in ACTC1;LOC101928174 gene and Atrial Septal Defect 5 PMID 21622575 2011 Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

PMID 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

PMID 17611253 2007 Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

PMID 10966831 2000 Inherited and de novo mutations in the cardiac actin gene cause 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.

rs193922680 in ACTC1;LOC101928174 gene and CARDIOMYOPATHY, DILATED, 1R PMID 17611253 2007 Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

PMID 16611632 2006 Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

PMID 10966831 2000 Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.

PMID 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

PMID 21622575 2011 Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

rs193922680 in ACTC1;LOC101928174 gene and Cardiomyopathy, Familial Hypertrophic, 11 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 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

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.

rs193922680 in ACTC1;LOC101928174 gene and Hypertrophic Cardiomyopathy PMID 17611253 2007 The E101K mutation in the alpha-cardiac actin gene (ACTC) has been associated with apical hypertrophic cardiomyopathy (HCM).

PMID 16611632 2006 Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

PMID 10966831 2000 Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.

PMID 21622575 2011 Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

PMID 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

PMID 24736382 2014 Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies.

PMID 16267253 2005 Gene mutations in apical hypertrophic cardiomyopathy.

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.