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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13467795
Species: Homo sapiens
RGD Object: Variant
Symbol: CV470848
Name: NM_006950.3(SYN1):c.528-2A>T
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)
CV470848 IAGP 8554872ClinVarClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndromePMID:14985377 PMID:16199547 PMID:21441247 PMID:25741868 PMID:28492532 PMID:36568968
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