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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9682578
Species: Homo sapiens
RGD Object: Variant
Symbol: CV168862
Name: NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
CV168862 IAGP 8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:15580558 PMID:15718250 PMID:18414213 PMID:22701567 PMID:25741868 PMID:26448950 PMID:28492532 PMID:32935446
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