Variant: rs746930990 

    present in Gene: ITPA
    present in Chromosome: 20
    Position on Chromosome: 3223409
    Alleles of this Variant: C/T

rs746930990 in ITPA gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 PMID 26224535 2015 Recessive ITPA mutations cause an early infantile encephalopathy.