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Gene entry

AGL

amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase

Chromosome
1
Cytoband
1p21.2
Variants (rsID)
52

AGL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p21.2). Its official name is “amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase”. The reference table lists 52 variants (rsID) for this gene.

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Clinically classified variants

38 reference-table entries with clinical significance.

  • rs138203039Benignsingle nucleotide variantGlycogen storage disease type III
  • rs184309460Benignsingle nucleotide variantGlycogen storage disease type III
  • rs2230305Benignsingle nucleotide variantGlycogen storage disease type III
  • rs2230307Benignsingle nucleotide variantGlycogen storage disease type III
  • rs2307129Benignsingle nucleotide variantGlycogen storage disease type III
  • rs28730701Benignsingle nucleotide variantGlycogen storage disease type III
  • rs28730706Benignsingle nucleotide variantGlycogen storage disease type III
  • rs58794035Benignsingle nucleotide variant
  • rs138105395Conflicting interpretationssingle nucleotide variantGlycogen storage disease type III
  • rs138134718Conflicting interpretationssingle nucleotide variantGlycogen storage disease type III
  • rs141043166Conflicting interpretationssingle nucleotide variantGlycogen storage disease type III
  • rs143815159Conflicting interpretationssingle nucleotide variantGlycogen storage disease type III
  • rs144723143Conflicting interpretationssingle nucleotide variantGlycogen storage disease type III
  • rs146041189Conflicting interpretationssingle nucleotide variantGlycogen storage disease type III
  • rs149210307Conflicting interpretationssingle nucleotide variantGlycogen storage disease type III
  • rs150441555Conflicting interpretationssingle nucleotide variantGlycogen storage disease type III
  • rs202046937Conflicting interpretationssingle nucleotide variantGlycogen storage disease type III
  • rs765098686Conflicting interpretationssingle nucleotide variantGlycogen storage disease type III
  • rs113994126Pathogenicsingle nucleotide variantGlycogen storage disease IIIb|Glycogen storage disease type III
  • rs113994127PathogenicDeletionGlycogen storage disease type III|Glycogen storage disease IIIb
  • rs113994128Pathogenicsingle nucleotide variantGlycogen storage disease IIIa|Glycogen storage disease type III
  • rs113994129Pathogenicsingle nucleotide variantGlycogen storage disease IIIb|Glycogen storage disease type III
  • rs113994130Pathogenicsingle nucleotide variantGlycogen storage disease type III
  • rs113994131Pathogenicsingle nucleotide variantGlycogen storage disease type III
  • rs113994132PathogenicDeletionGlycogen storage disease IIIa|Glycogen storage disease type III
  • rs199922945Pathogenicsingle nucleotide variantGlycogen storage disease IIIa|Glycogen storage disease type III
  • rs267606640Pathogenicsingle nucleotide variantGlycogen storage disease IIIa|Glycogen storage disease type III
  • rs369973784Pathogenicsingle nucleotide variantGlycogen storage disease IIIb|Glycogen storage disease IIIa|Glycogen storage disease type III
  • rs370792293Pathogenicsingle nucleotide variantGlycogen storage disease type III|Glycogen storage disease IIIa
  • rs387906244PathogenicDuplicationGlycogen storage disease IIIa|Glycogen storage disease type III|Inborn genetic diseases
  • rs771961377Pathogenicsingle nucleotide variantGlycogen storage disease type III
  • rs143987049Uncertain significancesingle nucleotide variantGlycogen storage disease type III
  • rs180768312Uncertain significancesingle nucleotide variantGlycogen storage disease type III
  • rs185947256Uncertain significancesingle nucleotide variantGlycogen storage disease type III
  • rs188519129Uncertain significancesingle nucleotide variantGlycogen storage disease type III
  • rs199660743Uncertain significancesingle nucleotide variantGlycogen storage disease type III
  • rs201584227Uncertain significancesingle nucleotide variantGlycogen storage disease type III
  • rs202084554Uncertain significancesingle nucleotide variantGlycogen storage disease type III

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.