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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10396885
Species: Homo sapiens
RGD Object: Variant
Symbol: CV201142
Name: NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
Acc ID: DOID:0090045
Term: childhood-onset GLUT1 deficiency syndrome 2
Definition: A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26336901 "DO" "DO", https://www.omim.org/entry/612126 "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)
CV201142 IAGP 8554872ClinVarClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2PMID:10980529 PMID:20129935 PMID:21832227 PMID:25326635 PMID:25741868 PMID:26193382 PMID:26216499 PMID:28492532
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