rs41313746

This variant is located in the KCNH2 gene.

▶

ClinVar annotation

Likely Benign★★★☆
6 submitters2 publications

Long QT syndrome 2; not specified; not provided; Cardiovascular phenotype

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…