Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology

Abstract excerpt

Abstract KCNH2 is one of the 59 medically actionable genes recommended by the American College of Medical Genetics for reporting of incidental findings from clinical genomic sequencing. However, half of the reported KCNH2 variants in the ClinVar database are classified as variants of uncertain significance. In the absence of strong clinical phenotypes, there is a need for functional phenotyping to help decipher...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiac electrophysiology and arrhythmias
• Share to Ion channel regulation and function
• Share to Receptor Mechanisms and Signaling