Variant: rs1057518195 

    present in Gene: TTN;TTN-AS1
    present in Chromosome: 2
    Position on Chromosome: 178535790
    Alleles of this Variant: G/A

rs1057518195 in TTN;TTN-AS1 gene and Cardiomyopathy, Dilated, 1g PMID 24395473 2014 Atypical phenotypes in titinopathies explained by second titin mutations.

PMID 23975875 2013 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

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

rs1057518195 in TTN;TTN-AS1 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 23975875 2013 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

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

PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.