Variant: rs397516248 

    present in Gene: MYH7;MHRT
    present in Chromosome: 14
    Position on Chromosome: 23415153
    Alleles of this Variant: C/T

rs397516248 in MYH7;MHRT gene and Cardiomyopathy, Dilated PMID 22918376 2013 Myosinopathies: pathology and mechanisms.

PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 25576864 2015 A rare mutation in MYH7 gene occurs with overlapping phenotype.

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

rs397516248 in MYH7;MHRT gene and Cardiomyopathy, Hypertrophic, Familial PMID 27387980 2016 MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

PMID 25576864 2015 A rare mutation in MYH7 gene occurs with overlapping phenotype.

PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 28855170 2017 A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.

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

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

rs397516248 in MYH7;MHRT gene and Distal Myopathy 1 PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

rs397516248 in MYH7;MHRT gene and Left ventricular noncompaction cardiomyopathy PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

rs397516248 in MYH7;MHRT gene and Neuromuscular Diseases PMID 25576864 2015 A rare mutation in MYH7 gene occurs with overlapping phenotype.

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 22918376 2013 Myosinopathies: pathology and mechanisms.