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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10397003
Species: Homo sapiens
RGD Object: Variant
Symbol: CV204029
Name: NM_006950.3(SYN1):c.426A>G (p.Lys142=)
Acc ID: DOID:0112122
Term: X-linked epilepsy with variable learning disabilities and behavior disorders
Definition: An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/14985377/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/21441247/ "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)
CV204029 IAGP 8554872ClinVarClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disordersPMID:25741868 PMID:28492532
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