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SCN3A

sodium voltage-gated channel alpha subunit 3

HCNC Approved Symbol
SCN3A (HGNC:10590)
Genomic Coordinates
2:165,087,526 - 165,204,050 (2q24.3)
Synonyms
Nav1.3
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the SCN3A gene.

Frequently observed phenotypes

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

Seizures
 4 (33.3%)
Microcephaly
 4 (33.3%)
Global developmental delay
 2 (16.7%)
Hyperactive behavior
 2 (16.7%)
Cleft palate
 2 (16.7%)
SCN3A - Gene browser | 3billion