AGL Chromosome 1

Amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
570 variants 570 Health Risk

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What This Gene Does
This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glycoside hydrolase family
Locus Type
gene with protein product
Location
1p21.2
Ensembl
ENSG00000162688
Associated Conditions (15)
Glycogen storage disease type III
Inborn genetic diseases
AGL-related disorder
Cervical cancer
Nonpapillary renal cell carcinoma
Glycogen storage disease IIIb
Glycogen storage disease IIIc
Colon adenocarcinoma
Glycogen storage disease IIIa
Acute rhabdomyolysis
Glycogen storage disease
Thyroid cancer
nonmedullary
1
Abnormality of metabolism/homeostasis
Key Variants
RS12117747
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS1227779911
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS1275707003
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS1288036533
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS1332399736
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS137943515
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
Health Risk
RS138063386
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS138105395
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Inborn genetic diseases, AGL-related disorder
Health Risk
RS138134718
Conflicting classifications of pathogenicity
Glycogen storage disease type III, AGL-related disorder, Glycogen storage disease type III
Health Risk
RS138823746
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
Health Risk
RS139399527
Conflicting classifications of pathogenicity
Glycogen storage disease type III, AGL-related disorder, Cervical cancer
Health Risk
RS139488862
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
Health Risk
All Variants (570)
RSID Category Clinical Significance Conditions
RS12117747 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1227779911 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1275707003 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1288036533 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1332399736 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS137943515 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS138063386 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS138105395 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, AGL-related disorder
RS138134718 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, AGL-related disorder, Glycogen storage disease type III
RS138823746 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS139399527 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, AGL-related disorder, Cervical cancer
RS139488862 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS1402386421 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS140375476 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS140481863 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS141944878 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS143815159 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, AGL-related disorder, Glycogen storage disease type III
RS143987049 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS146041189 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, AGL-related disorder, Glycogen storage disease type III
RS147024351 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS1475224037 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS147977213 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS148981763 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS149210307 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, AGL-related disorder, Glycogen storage disease type III
RS150637770 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS1570442236 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1651940013 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1653326843 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS185947256 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS186709388 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS191429370 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS200180652 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS201584227 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS202046937 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS2230308 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, AGL-related disorder
RS28730708 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS372116308 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS375256646 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS375459662 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS375755924 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS376486225 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS376827010 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS376885398 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS527819721 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
RS539403694 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS542885983 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS562215810 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS567992352 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS576969969 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS746550765 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
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