Variant: rs267607156

present in Gene: TTN-AS1;TTN present in Chromosome: 2 Position on Chromosome: 178527121 Alleles of this Variant: A/G

rs267607156 in TTN-AS1;TTN gene and TIBIAL MUSCULAR DYSTROPHY, TARDIVE PMID 12891679 2003 Tibial muscular dystrophy in a Belgian family.

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