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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12899518
Species: Homo sapiens
RGD Object: Variant
Symbol: CV410514
Name: NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His)
Acc ID: DOID:0080454
Term: developmental and epileptic encephalopathy 42
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27476654 "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)
CV410514 IAGP 8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:25741868 PMID:28492532 PMID:29276004
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