Variant: rs45544633 

    present in Gene: MHRT;MYH7
    present in Chromosome: 14
    Position on Chromosome: 23417174
    Alleles of this Variant: G/A

rs45544633 in MHRT;MYH7 gene and Cardiomyopathy, Dilated PMID 26383716 2015 Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification.

PMID 19854198 2010 Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.

PMID 19412328 2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

PMID 24047955 2013 Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes.

PMID 25961035 2015 The sarcomeric M-region: a molecular command center for diverse cellular processes.

PMID 22155079 2012 Effects of pathogenic proline mutations on myosin assembly.

PMID 23153285 2012 A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.

PMID 22337857 2012 Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

PMID 18660445 2008 Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy.

PMID 15556047 2004 Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.

PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

rs45544633 in MHRT;MYH7 gene and Cardiomyopathy, Hypertrophic, Familial PMID 15556047 2004 Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.

PMID 15322983 2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

PMID 19854198 2010 Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.

PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

PMID 22155079 2012 Effects of pathogenic proline mutations on myosin assembly.

PMID 19412328 2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

PMID 18660445 2008 Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy.