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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8659128
Species: Homo sapiens
RGD Object: Variant
Symbol: CV134006
Name: NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
Acc ID: DOID:0050990
Term: episodic ataxia type 2
Definition: An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO)
Definition Source(s): https://www.omim.org/entry/108500 "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)
CV134006 IAGP 8554872ClinVarClinVar Annotator: match by term: Episodic ataxia type 2PMID:25741868 PMID:26467025 PMID:28492532
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