Variant: rs764239923 

    present in Gene: GLDN
    present in Chromosome: 15
    Position on Chromosome: 51404521
    Alleles of this Variant: G/A;C

rs764239923 in GLDN gene and LETHAL CONGENITAL CONTRACTURE SYNDROME 11 PMID 27616481 2016 Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.