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VARIANT - TERM ANNOTATION REPORT

RGD ID: 15105426
Species: Homo sapiens
RGD Object: Variant
Symbol: CV685735
Name: NM_006516.4(SLC2A1):c.318C>T (p.Ser106=)
Acc ID: DOID:0090044
Term: dystonia 9
Definition: A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, 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/books/NBK1430/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30616884 "DO" "DO", https://www.omim.org/entry/601042 "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)
CV685735 IAGP 8554872ClinVarClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITYPMID:25741868 PMID:28492532
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