Variant: rs202151337

present in Gene: SCN8A present in Chromosome: 12 Position on Chromosome: 51806788 Alleles of this Variant: A/G

rs202151337 in SCN8A gene and SCN8A-related epilepsy with encephalopathy PMID 22365152 2012 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.