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| Num | Gene | Region(G) | Nucl. Change | A.A. Change | Genotype | Region(P) | Region Type(P) | Class |
|---|---|---|---|---|---|---|---|---|
| 1* | KCNH2 | exon 13 | 3140 G>T | Arg 1047 Leu* | G/T | C-Terminal | C-Terminal | III |
The variant Arg 1047 Leu may be a susceptibility variant in dofetilide-induced Torsades de Pointes (Sun, et al., J Mol Cell Cardiol. 2004 Nov;37(5):1031-9).
