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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8614002
Species: Homo sapiens
RGD Object: Variant
Symbol: CV67727
Name: NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)
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)
CV67727 IAGP 8554872ClinVarClinVar Annotator: match by term: Long QT syndromePMID:10367071 PMID:10973849 PMID:14998624 PMID:15234419 PMID:15840476 PMID:17470695 PMID:19716085 PMID:20486126 PMID:22581653 PMID:23130128 PMID:23392653 PMID:25741868 PMID:27251404 PMID:28492532 PMID:29532034 PMID:30571187 PMID:34505893 PMID:9386136
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