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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9687821
Species: Homo sapiens
RGD Object: Variant
Symbol: CV175841
Name: NM_000218.3(KCNQ1):c.567G>T (p.Gly189=)
Acc ID: DOID:2843
Term: long QT syndrome
Definition: An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Long_QT_syndrome "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)
CV175841 IAGP 8554872ClinVarClinVar Annotator: match by term: Long QT syndromePMID:24033266 PMID:25741868 PMID:28492532
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