SCN9A - Gene browser

SCN9A

sodium voltage-gated channel alpha subunit 9

HCNC Approved Symbol: SCN9A (HGNC:10597)
Genomic Coordinates: 2:166,195,185 - 166,375,987 (2q24.3)
Synonyms: Nav1.7, PN1, NE-NA, NENA, ETHA
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the SCN9A gene.

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

08
Patient count

Seizures: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Peripheral axonal degeneration: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Peripheral nerve disease: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Peripheral nervous system disease: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Peripheral neuropathy, sensory: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)