Variant: rs1011196447 

    present in Gene: GFPT1
    present in Chromosome: 2
    Position on Chromosome: 69354314
    Alleles of this Variant: T/C

rs1011196447 in GFPT1 gene and MYASTHENIC SYNDROME, CONGENITAL, 12 PMID 28464723 2017 Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

PMID 23794683 2013 GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.