Variant: rs142740233 

    present in Gene: SLC12A5
    present in Chromosome: 20
    Position on Chromosome: 46056217
    Alleles of this Variant: G/A;T

rs142740233 in SLC12A5 gene and EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 PMID 26528127 2015 Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.

PMID 24668262 2014 A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.

PMID 24928908 2014 Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.