Variant: rs1553485330 

    present in Gene: TTN-AS1;TTN
    present in Chromosome: 2
    Position on Chromosome: 178531129
    Alleles of this Variant: C/-

rs1553485330 in TTN-AS1;TTN gene and Multiple congenital anomalies PMID 10462489 1999 Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.

PMID 11717165 2001 The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system.

PMID 24395473 2014 Atypical phenotypes in titinopathies explained by second titin mutations.

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 23418287 2013 Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

PMID 17444505 2007 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 1745277 1991 Muscular dystrophy with separate clinical phenotypes in a large family.

PMID 21810661 2011 Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.

PMID 24105469 2014 Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

PMID 21617319 2011 Contribution of genetic factors to the pathogenesis of dilated cardiomyopathy: the cause of dilated cardiomyopathy: genetic or acquired? (genetic-side).

PMID 23518707 2013 Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

PMID 12669942 2003 Left ventricular systolic dysfunction and ischemic cardiomyopathy.