Table 5.

GAA Variants Discussed in This GeneReview

Variant ClassificationDNA Nucleotide ChangePredicted Protein ChangeReference Sequences
Pseudodeficiency c.1726G>Ap.Gly576Ser NM_000152​.5
NP_000143​.2
Pathogenic c.-32-13T>G
(IVS1-13T>G 1)		-- NM_000152​.5
c.525delTp.Glu176ArgfsTer45 NM_000152​.5
NP_000143​.2
c.1935C>Ap.Asp645Glu
c.2481+110_2646+39del538
(Exon 18 del)		p.Gly828_Asn882del
c.2560C>Tp.Arg854Ter

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.

Variant designation that does not conform to current naming conventions

From: Pompe Disease

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