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VARIANT - TERM ANNOTATION REPORT

CRRD ID: 11049598
Species: Homo sapiens
CRRD Object: Variant
Symbol: CV224877
Name: NM_018129.4(PNPO):c.674G>A (p.Arg225His)
Acc ID: DOID:11832
Term: visual epilepsy
Definition: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or 'seizure disorder.'
Definition Source(s): MESH:D012640
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)
CV224877 IAGP 8554872ClinVarClinVar Annotator: match by term: Seizures

PMID:24266778, PMID:24645144, PMID:24658933, PMID:24781210, PMID:25741868, PMID:25762494, PMID:28492532, PMID:30311386
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.