The missense mutation, D1275N, has been associated with a range of unusual phenotypes associated with reduced Na<sub>V</sub>1.5 function, including cardiac conduction disease and dilated cardiomyopathy.
The D1275N SCN5A mutation has been associated with a range of unusual phenotypes, including conduction disease and dilated cardiomyopathy, as well as atrial and ventricular tachyarrhythmias.