Variant: rs267607155 

    present in Gene: TTN
    present in Chromosome: 2
    Position on Chromosome: 178782980
    Alleles of this Variant: A/G;T

rs267607155 in TTN gene and Cardiomyopathy, Dilated PMID 11788824 2002 Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

PMID 28941705 2017 Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 10051295 1999 Familial dilated cardiomyopathy locus maps to chromosome 2q31.

PMID 26315439 2015 HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.

rs267607155 in TTN gene and Cardiomyopathy, Dilated, 1g PMID 11788824 2002 Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

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

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