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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9687822
Species: Homo sapiens
RGD Object: Variant
Symbol: CV174724
Name: NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)
Acc ID: DOID:9000064
Term: Cardiac Arrhythmias
Definition: Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.
Definition Source(s): MESH:D001145
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)
CV174724 IAGP 8554872ClinVarClinVar Annotator: match by term: Cardiac arrhythmiasPMID:24033266 PMID:25741868 PMID:28492532
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