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SCN5A

sodium voltage-gated channel alpha subunit 5

HCNC Approved Symbol
SCN5A (HGNC:10593)
Genomic Coordinates
3:38,548,062 - 38,649,687 (3p22.2)
Synonyms
Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD, CMD1E
Disease Associations
This gene is associated with the following 9 diseases in OMIM.

Diagnosed Cases

27Patients

In total, 27 patients were diagnosed with a variant in the SCN5A gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Arrhythmia
 6 (22.2%)
Long qt syndrome
 6 (22.2%)
Syncope
 
3 (11.1%)
Hypertrophic cardiomyopathy
 
3 (11.1%)
Left ventricular hypertrophy
 
3 (11.1%)
SCN5A - Gene browser | 3billion