Variant: rs121912675 

    present in Gene: LOC101928174;ACTC1
    present in Chromosome: 15
    Position on Chromosome: 34791215
    Alleles of this Variant: C/A

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).