SCNN1A - Gene browser

SCNN1A

sodium channel epithelial 1 subunit alpha

HCNC Approved Symbol: SCNN1A (HGNC:10599)
Genomic Coordinates: 12:6,346,847 - 6,377,359 (12p13.31)
Synonyms: ENaCalpha, SCNN1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the SCNN1A gene.

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

03
Patient count

Hyperkalemia: 3 (100.0%)
Patient Count: 3 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (100.0%)
Hyponatremia: 3 (100.0%)
Patient Count: 3 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (100.0%)
Elevated plasma renin: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Hyperaldosteronism: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Hyperchloremic metabolic acidosis: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)