Article

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

2022-08-05

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Variants in KCNH2 , encoding the hERG channel which is responsible for the rapid component of the cardiac delayed rectifier K + current (I Kr ), are causal to Long QT Syndrome type 2 (LQTS2). We identified eight index patients with a new variant of unknown significance (VUS), KCNH2 :c.2717C>T:p.(Ser906Leu). We aimed to elucidate the biophysiological effect of this varian...

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Literature Corpus work: 9c5c26b2-9811-501e-9ddd-689c414ccab9
DOI: 10.1101/2022.08.05.502917

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