rs375535030

This variant is located in the SCN4B gene.

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ClinVar annotation

Uncertain Significance★★★☆
4 submitters3 publications

Cardiovascular phenotype; not provided; Long QT syndrome 10; not specified

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About SCN4B

The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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