Variant: rs1554129091 

    present in Gene: PURA
    present in Chromosome: 5
    Position on Chromosome: 140114668
    Alleles of this Variant: C/T

rs1554129091 in PURA gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 PMID 25439098 2014 Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.