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VARIANT - TERM ANNOTATION REPORT

RGD ID: 26920832
Species: Homo sapiens
RGD Object: Variant
Symbol: CV852325
Name: NM_021267.5(CERS1):c.591-3C>T
Acc ID: DOID:0111451
Term: progressive myoclonus epilepsy 8
Definition: A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. (DO)
Definition Source(s): PMID:19243074 "DO" "DO", PMID:24782409 "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)
CV852325 IAGP 8554872ClinVarClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8PMID:17576681 PMID:28492532 PMID:9536098
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