Disease:
Long QT Syndrome

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Gene ? Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA No Variant Annotations available
rs10800397 13725732C>T, 162237090C>T, 178-20044C>T, 202510C>T
C > T
Intronic
No VIP available CA No Variant Annotations available
rs10919035 13732654C>T, 162244012C>T, 178-13122C>T, 209432C>T
C > T
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names: 
Synonym
Long QT Syndromes; QT Syndrome, Long; QT Syndromes, Long; Syndrome, Long QT; Syndromes, Long QT
PharmGKB Accession Id: PA444807
External Vocabularies

Curated Information ?

EvidenceGene
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
KCNH2
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
NOS1AP
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
SCN5A

Curated Information ?

No related diseases are available

Publications related to Long QT Syndrome: 52

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
163 Genetic Modifiers in Carriers of the SCN5A E1784K Mutation with Variable Phenotypic Expression - Long QT3 / Brugada Syndrome Overlap Disease. Heart (British Cardiac Society). 2014. Dullewe Wijeyeratne Yanushi, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. Journal of the American College of Cardiology. 2012. Jamshidi Yalda, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes. The pharmacogenomics journal. 2012. Ramirez A H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of drugs withdrawn from the market. Pharmacogenomics. 2012. Zhang Wei, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes. Circulation. Cardiovascular genetics. 2011. Kääb Stefan, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenomics: the genetics of variable drug responses. Circulation. 2011. Roden Dan M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
KCNH2 pharmacogenomics summary. Pharmacogenetics and genomics. 2010. Oshiro Connie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Drug-induced long QT syndrome. Pharmacological reviews. 2010. Kannankeril Prince, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Brugada syndrome: lots of questions, some answers. Heart rhythm : the official journal of the Heart Rhythm Society. 2010. Roden Dan M. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Heart rhythm disturbances associated with rupatadine: a case series from the Spanish and Portuguese pharmacovigilance systems. Clinical pharmacology and therapeutics. 2009. Carvajal A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Common candidate gene variants are associated with QT interval duration in the general population. Journal of internal medicine. 2009. Marjamaa A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel. Circulation. Arrhythmia and electrophysiology. 2008. Wang Dao W, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Arrhythmia pharmacogenomics: methodological considerations. Current pharmaceutical design. 2009. Roden Dan M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Hydroxyzine, a first generation H(1)-receptor antagonist, inhibits human ether-a-go-go-related gene (HERG) current and causes syncope in a patient with the HERG mutation. Journal of pharmacological sciences. 2008. Sakaguchi Tomoko, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cellular basis of drug-induced torsades de pointes. British journal of pharmacology. 2008. Roden D M. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. The Journal of clinical investigation. 2008. Makita Naomasa, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family. Journal of medical genetics. 2008. Sun A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
QT Prolongation and delayed atrioventricular conduction caused by acute ingestion of trazodone. Clinical toxicology (Philadelphia, Pa.). 2008. Service Jennifer A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. BMC medical genetics. 2008. Zhang Xianqin, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study. Circulation. 2007. Newton-Cheh Christopher, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Functional polymorphisms of the cytochrome P450 1A2 (CYP1A2) gene and prolonged QTc interval in schizophrenia. Progress in neuro-psychopharmacology & biological psychiatry. 2007. Tay Joshua K X, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Drug-induced long QT and torsade de pointes: recent advances. Current opinion in cardiology. 2007. Kannankeril Prince J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation. 2006. Poelzing Steven, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
hERG potassium channels and cardiac arrhythmia. Nature. 2006. Sanguinetti Michael C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart rhythm : the official journal of the Heart Rhythm Society. 2005. Tan Bi-Hua, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pentamidine reduces hERG expression to prolong the QT interval. British journal of pharmacology. 2005. Cordes Jason S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. Circulation research. 2005. Pfeufer Arne, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Predictive in silico modeling for hERG channel blockers. Drug discovery today. 2005. Aronov Alex M. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart rhythm : the official journal of the Heart Rhythm Society. 2004. Ackerman Michael J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Probucol aggravates long QT syndrome associated with a novel missense mutation M124T in the N-terminus of HERG. Clinical science (London, England : 1979). 2004. Hayashi Kenshi, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenomic data submissions to the FDA: clinical pharmacology case studies. Pharmacogenomics. 2004. Ruaño Gualberto, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels. American journal of physiology. Heart and circulatory physiology. 2004. Anson Blake D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circulation research. 2003. Makielski Jonathan C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 2003. Mohler Peter J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. The Journal of clinical investigation. 2003. Viswanathan Prakash C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cardiac-enriched LIM domain protein fhl2 is required to generate I(Ks) in a heterologous system. Cardiovascular research. 2002. Kupershmidt Sabina, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002. Yang Ping, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Spontaneous adverse event reports of serious ventricular arrhythmias, QT prolongation, syncope, and sudden death in patients treated with cisapride. Journal of cardiovascular pharmacology and therapeutics. 2002. Barbey Jean T, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science (New York, N.Y.). 2002. Marx Steven O, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Fluoxetine (Prozac) as a cause of QT prolongation. Archives of internal medicine. 2001. Varriale P. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Sodium channel beta subunits: anything but auxiliary. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. 2001. Isom L L. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel. The EMBO journal. 2000. Tinel N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proceedings of the National Academy of Sciences of the United States of America. 2000. Sesti F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell. 1999. Abbott G W, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
"Brugada" syndrome: clinical data and suggested pathophysiological mechanism. Circulation. 1999. Alings M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997. Donger C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature. 1996. Sanguinetti M C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature. 1996. Barhanin J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS. Circulation. 1996. Roden D M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Dose-response relation between terfenadine (Seldane) and the QTc interval on the scalar electrocardiogram: distinguishing a drug effect from spontaneous variability. American heart journal. 1996. Pratt C M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation. 1995. Schwartz P J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell. 1995. Sanguinetti M C, et al. PubMed