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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13674000
Species: Homo sapiens
RGD Object: Variant
Symbol: CV535682
Name: NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln)
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)
CV535682 IAGP 8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:18835386 PMID:25741868 PMID:28492532 PMID:29276004 PMID:29768694 PMID:31780880 PMID:32337345 PMID:32581362 PMID:33504645
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