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VARIANT - TERM ANNOTATION REPORT

CRRD ID: 8565847
Species: Homo sapiens
CRRD Object: Variant
Symbol: CV31857
Name: NM_001943.5(DSG2):c.166G>A (p.Val56Met)
Acc ID: DOID:2843
Term: long QT syndrome
Definition: A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
Definition Source(s): http://en.wikipedia.org/wiki/Long_QT_syndrome "DO", MESH:D008133
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)
CV31857 IAGP 8554872ClinVarClinVar Annotator: match by term: Long QT syndrome

PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.