rs9333649

rs9333649, also known as G572R or Gly572Arg, is a SNP in the KCNH2 gene on chromosome 7. Carrying one copy of the rs9333649(C) allele has been reported at least twice to be associated with long QT syndrome; see OMIM for discussion. This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs). Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Calorimetric and equilibrium binding studies of the interaction of substrates with glutamine synthetase of Escherichia coli. High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Effect of apomorphine on the antinociceptive activity of morphine. Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]. Long QT and Brugada syndrome gene mutations in New Zealand.

G;G

see discussion at rs9333649