Variant: rs193922390 

    present in Gene: MHRT;MYH7
    present in Chromosome: 14
    Position on Chromosome: 23415651
    Alleles of this Variant: C/G;T

rs193922390 in MHRT;MYH7 gene and Cardiomyopathy, Hypertrophic, Familial PMID 28771489 2017 Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

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

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

PMID 21511876 2011 Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.

PMID 24510615 2014 Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

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

PMID 23785128 2013 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

rs193922390 in MHRT;MYH7 gene and Hypertrophic Cardiomyopathy PMID 15483641 2005 One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

PMID 23785128 2013 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

PMID 24510615 2014 Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

PMID 23074333 2012 Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.

PMID 21511876 2011 Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.

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