Variant: rs397516153 

    present in Gene: MYH7
    present in Chromosome: 14
    Position on Chromosome: 23424935
    Alleles of this Variant: G/A;T

rs397516153 in MYH7 gene and Restrictive cardiomyopathy PMID 18380764 2008 A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.