Variant: rs1057516364 

    present in Gene: CLTA;GNE
    present in Chromosome: 9
    Position on Chromosome: 36227267
    Alleles of this Variant: A/G

rs1057516364 in CLTA;GNE gene and NONAKA MYOPATHY PMID 23558691 2013 Novel GNE compound heterozygous mutations in a GNE myopathy patient.

PMID 24027297 2014 Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

PMID 15136692 2004 Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.

PMID 19917666 2010 Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

PMID 24796702 2014 Mutation update for GNE gene variants associated with GNE myopathy.