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Article

A novel familial SCN5A exon 20 deletion is associated with a heterogeneous phenotype.

Journal of electrocardiology - 1 Jan 2000

Kohli Utkarsh, Sriram Chenni S, Nayak Hemal M

Abstract excerpt

The SCN5A gene, located on chromosome 3p21, has 28 exons and is a member of the human voltage-gated sodium channel gene family. Genetic variation in SCN5A is associated with a diverse range of phenotypes. Due to incomplete penetrance, delayed expression, inherent low signal-to-noise ratio, and marked phenotypic heterogeneity, rare novel variants in SCN5A could be misinterpreted. Hence, defining the phenotypic...

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PMID: 33951591
DOI: 10.1016/j.jelectrocard.2021.04.011

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