WebThe EVA provides access to all submitted data via the Study Browser. Variants within VCF files submitted to EVA are normalised, annotated and used for statistical calculations (via … WebKCNH2 (also known as the human ether a-go-go related gene, hERG) encodes a 1,159 amino acid protein, K V 11.1, a voltage-gated potassium channel in the heart. Coding-altering variants in KCNH2 have been mostly linked to the heart arrhythmias, Long QT Syndrome Type 2 (LQT2), and Short QT Syndrome (SQT1). Loss-of-function variants in KCNH2 are …
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