Table 6.

STXBP1 Pathogenic Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment
NM_003165​.6
NP_003156​.1 		c.416C>Tp.Pro139LeuRecurrent variants (See Genotype-Phenotype Correlations.)
c.568C>Tp.Arg190Trp
c.874C>Tp.Arg292Cys
c.875G>Ap.Arg292His
c.875G>Tp.Arg292Leu
c.1216C>Tp.Arg406Cys
c.1217G>Ap.Arg406His
c.1651C>Tp.Arg551Cys
c.1651C>Gp.Arg551Gly
c.1652G>Ap.Arg551His
c.1652G>Tp.Arg551Leu

Variants listed in the table have been provided by the author. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: STXBP1 Encephalopathy with Epilepsy

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