Variant: rs1554689313 

    present in Gene: GABBR2
    present in Chromosome: 9
    Position on Chromosome: 98306231
    Alleles of this Variant: C/T

rs1554689313 in GABBR2 gene and NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS PMID 29369404 2018 A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

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

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.