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VARIANT - TERM ANNOTATION REPORT

RGD ID: 15177131
Species: Homo sapiens
RGD Object: Variant
Symbol: CV762044
Name: NM_001367561.1(DOCK7):c.1197T>G (p.Ala399=)
Acc ID: DOID:0080415
Term: developmental and epileptic encephalopathy 23
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24814191 "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)
CV762044 IAGP 8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23PMID:28492532
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