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VARIANT - TERM ANNOTATION REPORT

RGD ID: 14692276
Species: Homo sapiens
RGD Object: Variant
Symbol: CV616896
Name: NM_000335.5(SCN5A):c.5403C>G (p.Asp1801Glu)
Acc ID: HP:0011675
Term: Arrhythmia
Definition: Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Definition Source(s): HPO_CONTRIBUTOR:DDD_dbrown, PMID:19063792
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)
CV616896 IAGP 8554872ClinVarClinVar Annotator: match by term: Cardiac arrhythmia

PMID:25741868 PMID:28492532 PMID:32893267
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