Variant: rs1554121189 

    present in Gene: MIR5004;SYNGAP1
    present in Chromosome: 6
    Position on Chromosome: 33437760
    Alleles of this Variant: -/TGGATGAC

rs1554121189 in MIR5004;SYNGAP1 gene and Mental Retardation, Autosomal Dominant 5 PMID 23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.