Variant: rs1554093884 

    present in Gene: GABRB2
    present in Chromosome: 5
    Position on Chromosome: 161331014
    Alleles of this Variant: C/T

rs1554093884 in GABRB2 gene and EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 PMID 25124326 2014 A novel variant in GABRB2 associated with intellectual disability and epilepsy.

PMID 27789573 2017 A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.