rs11909074

This variant is located in the KCNE1 gene.

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5; not provided; Long QT syndrome

About KCNE1

The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

View all KCNE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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