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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10408003
Species: Homo sapiens
RGD Object: Variant
Symbol: CV205000
Name: NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
Acc ID: DOID:0060748
Term: familial temporal lobe epilepsy 1
Definition: A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10851389 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12205652 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15079010 "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)
CV205000 IAGP 8554872ClinVarClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1PMID:25741868 PMID:28492532
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