Table 7.

SCN4A Pathogenic Variants Causing Hypokalemic Periodic Paralysis Discussed in This GeneReview

DNA Nucleotide ChangePredicted Protein ChangeReference Sequences
c.664C>Gp.Arg222Gly NM_000334​.4
NP_000325​.4
c.664C>Tp.Arg222Trp
c.2006G>Ap.Arg669His
c.2014C>Ap.Arg672Ser
c.2014C>Gp.Arg672Gly
c.2014C>Tp.Arg672Cys
c.2015G>Ap.Arg672His
c.3386G>Ap.Arg1129Gln
c.3395G>Ap.Arg1132Gln
c.3404G>Ap.Arg1135His

Variants listed in the table have been provided by the authors. 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: Hypokalemic Periodic Paralysis

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