Variant: rs397516373 

    present in Gene: TPM1
    present in Chromosome: 15
    Position on Chromosome: 63059663
    Alleles of this Variant: G/A

rs397516373 in TPM1 gene and Cardiomyopathies PMID 29517769 2018 Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.

PMID 29024827 2018 Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.

PMID 27177193 2016 Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation.

PMID 28359939 2017 Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.

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

rs397516373 in TPM1 gene and Cardiomyopathy, Hypertrophic, Familial PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

PMID 27177193 2016 Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation.

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