Table 4.

SCN8A variant

Chr:position GRCh37(hg19)	HGVS cDNA	HGVS protein	Type of variant	Predicted effect	Genotype	Parent of origin
12:52,093,447	c.800T>C	p.Leu267Ser	Substitution	Missense	Heterozygous	De novo

HGVS, Human Genome Variation Society.