Table 7.

RAB18 Pathogenic Variants Discussed in This GeneReview

DNA Nucleotide ChangePredicted Protein ChangeReference Sequences
c.71T>Ap.Leu24Gln NM_021252​.4
NP_067075​.1
c.277_279delp.Arg93del
c.284C>Gp.Thr95Arg
c.619T>Cp.Ter207GlnextTer20 1

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.

1.

An extension variant with a sequence change in the translation termination (stop or Ter) codon 207 that extends the normal translational reading frame adding new amino acids and ending at new stop codon at position 20.

From: RAB18 Deficiency

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