Genetic Variants
Case#: CMP-83-03; sex NR; pediatric age, exact age NR
CasePresentingHPOs: HP:0001644
CaseHPOFreeText: Biopsy proven myocarditis with dilated cardiomyopathy
Genotyping Method: Targeted next-generation sequencing
Variant: TNNT2 c.460C>T (p.Arg154Trp); heterozygous; missense single-nucleotide variant
ClinVar: 132943
CAID: CA004554
gnomAD: 0.000032