rs140348243
This is a variant in the SCN4B gene that changes a serine to an leucine.
▶ClinVar annotation
Cardiovascular phenotype; Long QT syndrome 10 (LQT10); SUDDEN INFANT DEATH SYNDROME (SIDS)
View on ClinVar →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]
View all SCN4B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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