Variant: rs398122998 

    present in Gene: CHD2
    present in Chromosome: 15
    Position on Chromosome: 93020076
    Alleles of this Variant: G/A

rs398122998 in CHD2 gene and EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET PMID 24207121 2013 De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.