Variant: rs140403642 

    present in Gene: TRAPPC11
    present in Chromosome: 4
    Position on Chromosome: 183682810
    Alleles of this Variant: C/T

rs140403642 in TRAPPC11 gene and Muscular Dystrophies, Limb-Girdle PMID 27707803 2017 A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

PMID 26322222 2015 Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.