SCN5A - Gene browser

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.

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

027
Patient count

Arrhythmia: 6 (22.2%)
Patient Count: 6 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
6 (22.2%)
Long qt syndrome: 6 (22.2%)
Patient Count: 6 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
6 (22.2%)
Syncope: 3 (11.1%)
Patient Count: 3 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.1%)
Hypertrophic cardiomyopathy: 3 (11.1%)
Patient Count: 3 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.1%)
Left ventricular hypertrophy: 3 (11.1%)
Patient Count: 3 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.1%)