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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13811937
Species: Homo sapiens
RGD Object: Variant
Symbol: CV558557
Name: NM_000098.3(CPT2):c.1886C>T (p.Pro629Leu)
Acc ID: DOID:936
Term: brain disease
Definition: A central nervous system disease that is located_in the brain. (DO)
Definition Source(s): https://medlineplus.gov/braindiseases.html "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)
CV558557 IAGP 8554872ClinVarClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4PMID:25741868 PMID:28492532
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