Variant: rs139517732 

    present in Gene: TTN
    present in Chromosome: 2
    Position on Chromosome: 178802273
    Alleles of this Variant: C/T

rs139517732 in TTN gene and Cardiomyopathy, Dilated, 1g PMID 11788824 2002 Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

PMID 11846417 2002 Titin mutations as the molecular basis for dilated cardiomyopathy.

PMID 16465475 2005 Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.