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Gene entry

GAA

alpha glucosidase

Chromosome
17
Cytoband
17q25.3
Variants (rsID)
46

GAA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q25.3). Its official name is “alpha glucosidase”. The reference table lists 46 variants (rsID) for this gene.

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Clinically classified variants

44 reference-table entries with clinical significance.

  • rs1126690Benignsingle nucleotide variantGlycogen storage disease, type II
  • rs113085339Benignsingle nucleotide variantGlycogen storage disease, type II|Ventricular fibrillation
  • rs145712232Benignsingle nucleotide variantGlycogen storage disease, type II|Primary dilated cardiomyopathy
  • rs1800299Benignsingle nucleotide variantAcid alpha-glucosidase, allele 2|Glycogen storage disease, type II
  • rs1800307Benignsingle nucleotide variantGlycogen storage disease, type II
  • rs1800309Benignsingle nucleotide variantAcid alpha-glucosidase, allele 4|Glycogen storage disease, type II
  • rs1800315Benignsingle nucleotide variantGlycogen storage disease, type II
  • rs2278619Benignsingle nucleotide variantGlycogen storage disease, type II
  • rs377286472Benignsingle nucleotide variantGlycogen storage disease, type II|Hypertrophic cardiomyopathy
  • rs111261964Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs138097673Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs144090460Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs148578399Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs150536507Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs200088236Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs200202628Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II|Cardiomyopathy
  • rs200965268Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs201525743Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs202064115Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs367661167Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs373840229Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs374571499Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs386834236Conflicting interpretationssingle nucleotide variantGlycogen storage disease II, adult form|Glycogen storage disease, type II|Inborn genetic diseases|Myopathy|Glycogen storage disease due to acid maltase deficiency, late-onset|Glycogen storage disease, type IV
  • rs61736896Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type II
  • rs764583466Conflicting interpretationsDeletion
  • rs886043920Likely pathogenicDeletionGlycogen storage disease, type II
  • rs121907937Pathogenicsingle nucleotide variantGlycogen storage disease type II, infantile|Glycogen storage disease, type II
  • rs121907938Pathogenicsingle nucleotide variantGlycogen storage disease II, adult form|Glycogen storage disease, type II
  • rs121907942Pathogenicsingle nucleotide variantGlycogen storage disease II, adult form|Glycogen storage disease, type II
  • rs121907943Pathogenicsingle nucleotide variantGlycogen storage disease, type II|See cases
  • rs140826989Pathogenicsingle nucleotide variantGlycogen storage disease, type II
  • rs142752477Pathogenicsingle nucleotide variantGlycogen storage disease, type II
  • rs1800312Pathogenicsingle nucleotide variantGlycogen storage disease, type II|Glycogen storage disease
  • rs28937909Pathogenicsingle nucleotide variantGlycogen storage disease II, adult form|Glycogen storage disease, type II
  • rs28940868Pathogenicsingle nucleotide variantGlycogen storage disease type II, infantile|Glycogen storage disease, type II
  • rs369532274Pathogenicsingle nucleotide variantGlycogen storage disease, type II
  • rs370950728Pathogenicsingle nucleotide variantGlycogen storage disease, type II
  • rs374143224Pathogenicsingle nucleotide variantGlycogen storage disease, type II
  • rs779556619Pathogenicsingle nucleotide variantGlycogen storage disease, type II
  • rs121907944Uncertain significancesingle nucleotide variantGlycogen storage disease II, adult form|Glycogen storage disease, type II
  • rs141017311Uncertain significancesingle nucleotide variantGlycogen storage disease, type II|Hypertrophic cardiomyopathy
  • rs145866792Uncertain significancesingle nucleotide variantGlycogen storage disease, type II
  • rs199748889Uncertain significancesingle nucleotide variantGlycogen storage disease, type II
  • rs201902338Uncertain significancesingle nucleotide variantGlycogen storage disease, type II

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.