present in Gene: DSP
present in Chromosome: 6
Position on Chromosome: 7583572
Alleles of this Variant: A/-
rs730880092 in
DSP gene and
Cardiomyopathies
PMID 19924139 2010 Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.