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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8606810
Species: Homo sapiens
RGD Object: Variant
Symbol: CV53157
Name: NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val)
Acc ID: DOID:0110447
Term: dilated cardiomyopathy 1DD
Definition: A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19712804 "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)
CV53157 IAGP 8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1DDPMID:24033266 PMID:25741868 PMID:28492532
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