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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8610201
Species: Homo sapiens
RGD Object: Variant
Symbol: CV56497
Name: NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
Acc ID: HP:0001638
Term: Cardiomyopathy
Definition: A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:17916581
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)
CV56497 IAGP 8554872ClinVarClinVar Annotator: match by term: Cardiomyopathy

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
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