Variant: rs104894368 

    present in Gene: MYL2
    present in Chromosome: 12
    Position on Chromosome: 110919133
    Alleles of this Variant: C/A;G;T

rs104894368 in MYL2 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 PMID 14594949 2004 Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 12404107 2002 Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.

PMID 16076902 2005 The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.

PMID 25324513 2014 Impact of familial hypertrophic cardiomyopathy-linked mutations in the NH2 terminus of the RLC on β-myosin cross-bridge mechanics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 12668451 2003 Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy.

PMID 11102452 2001 Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.

PMID 17606808 2007 Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 26497160 2016 Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

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 9535554 1998 Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.

PMID 8673105 1996 Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

rs104894368 in MYL2 gene and Death in early adulthood PMID 27435932 2016 Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

rs104894368 in MYL2 gene and Hypertrophic Cardiomyopathy PMID 12668451 2003 Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy.

PMID 9724616 1998 Structural and functional responses of mammalian thick filaments to alterations in myosin regulatory light chains.

PMID 8673105 1996 Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.

PMID 16751284 2006 E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics.

PMID 11102452 2001 Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.

PMID 17606808 2007 Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients.

PMID 16076902 2005 The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.

PMID 12404107 2002 Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.

PMID 21896538 2011 Genetic basis of end-stage hypertrophic cardiomyopathy.

PMID 26497160 2016 Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

PMID 10948063 2000 In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy.