Variant: rs1554689315 

    present in Gene: GABBR2
    present in Chromosome: 9
    Position on Chromosome: 98306236
    Alleles of this Variant: A/T

rs1554689315 in GABBR2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 28856709 2017 GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

PMID 29369404 2018 A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.