rs199473034
This is a variant in the KCNH2 gene that changes a alanine to an threonine.
▶ClinVar annotation
Uncertain Significance★★★☆
4 submitters5 publicationsCardiovascular phenotype; Congenital long QT syndrome (RWS); Long QT syndrome (LQTS)
View on ClinVar →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]
View all KCNH2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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