Variant: rs145213771 

    present in Gene: MHRT;MYH7;MIR208B
    present in Chromosome: 14
    Position on Chromosome: 23417598
    Alleles of this Variant: G/A

rs145213771 in MHRT;MYH7;MIR208B gene and Hypertrophic Cardiomyopathy PMID 23140321 2012 A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

PMID 15358028 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

PMID 20624503 2011 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

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