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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8640346
Species: Homo sapiens
RGD Object: Variant
Symbol: CV99331
Name: NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=)
Acc ID: DOID:0060681
Term: autosomal dominant nocturnal frontal lobe epilepsy
Definition: A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7895015 "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)
CV99331 IAGP 8554872ClinVarClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsyPMID:25741868 PMID:26467025 PMID:28492532
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