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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8691286
Species: Homo sapiens
RGD Object: Variant
Symbol: CV141246
Name: NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)
Acc ID: DOID:0050700
Term: cardiomyopathy
Definition: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cardiomyopathy "DO" "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ "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)
CV141246 IAGP 8554872ClinVarClinVar Annotator: match by term: CardiomyopathyPMID:23623143 PMID:25741868 PMID:26467025 PMID:27182706 PMID:28492532
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