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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10055502
Species: Homo sapiens
RGD Object: Variant
Symbol: CV197511
Name: NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met)
Acc ID: HP:0001657
Term: Prolonged QT interval
Definition: Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
CV197511 IAGP 8554872ClinVarClinVar Annotator: match by term: Long QT syndrome

PMID:25741868 PMID:28492532 PMID:29420653
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