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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13813766
Species: Homo sapiens
RGD Object: Variant
Symbol: CV575116
Name: NM_004975.4(KCNB1):c.126C>G (p.His42Gln)
Acc ID: DOID:0080461
Term: developmental and epileptic encephalopathy 26
Definition: A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25164438 "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)
CV575116 IAGP 8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26PMID:28492532
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