Variant: rs775162839 

    present in Gene: UGDH
    present in Chromosome: 4
    Position on Chromosome: 39505705
    Alleles of this Variant: C/T

rs775162839 in UGDH gene and Epileptic encephalopathy PMID 32001716 2020 Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.