Variant: rs121909672

present in Gene: GABRG2 present in Chromosome: 5 Position on Chromosome: 162149168 Alleles of this Variant: A/T

rs121909672 in GABRG2 gene and GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 11326274 2001 First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.