rs199473035

This is a variant in the KCNH2 gene that changes a histidine to an tyrosine.

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ClinVar annotation

Uncertain Significance★★★☆

11 submitters8 publications

Cardiac arrhythmia; Cardiovascular phenotype; Congenital long QT syndrome (RWS); Long QT syndrome (LQTS); Long QT syndrome 2 (LQT2); Short QT syndrome type 1

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About KCNH2

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional potassium channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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