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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8557016
Species: Homo sapiens
RGD Object: Variant
Symbol: CV17862
Name: NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)
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)
CV17862 IAGP 8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:15141358 PMID:15154116 PMID:16648375 PMID:19006247 PMID:20461111 PMID:25741868 PMID:28492532 PMID:30843084 PMID:32384097
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