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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8595302
Species: Homo sapiens
RGD Object: Variant
Symbol: CV16135
Name: NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
Acc ID: DOID:2748
Term: glycogen storage disease III
Definition: A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/17047887/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV16135 IAGP 8554872ClinVarClinVar Annotator: match by term: Glycogen storage disease type IIIPMID:17196294 PMID:19299494 PMID:23430490 PMID:25741868 PMID:28492532 PMID:8755644
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