Variant: rs121913647 

    present in Gene: MHRT;MYH7
    present in Chromosome: 14
    Position on Chromosome: 23417173
    Alleles of this Variant: C/A;G;T

rs121913647 in MHRT;MYH7 gene and Cardiomyopathy, Hypertrophic, Familial PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

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

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

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 22155079 2012 Effects of pathogenic proline mutations on myosin assembly.

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

rs121913647 in MHRT;MYH7 gene and Distal Myopathy 1 PMID 15322983 2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

PMID 17548557 2007 New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.