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VARIANT - TERM ANNOTATION REPORT

RGD ID: 34888479
Species: Homo sapiens
RGD Object: Variant
Symbol: CV917732
Name: NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)
Acc ID: DOID:0050709
Term: early infantile epileptic encephalopathy
Definition: A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Ohtahara_syndrome "DO" "DO", http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm "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)
CV917732 IAGP 8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathyPMID:18804930 PMID:25348405 PMID:25741868 PMID:28492532
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