ATP1A3 - Gene browser

ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

HCNC Approved Symbol: ATP1A3 (HGNC:801)
Genomic Coordinates: 19:41,966,582 - 41,994,230 (19q13.2)
Synonyms: DYT12
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

43Patients

In total, 43 patients were diagnosed with a variant in the ATP1A3 gene.

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

043
Patient count

Dystonia: 9 (20.9%)
Patient Count: 9 (20.9%)
% of total patients presenting each phenotype is shown in parentheses.
9 (20.9%)
Epilepsy: 8 (18.6%)
Patient Count: 8 (18.6%)
% of total patients presenting each phenotype is shown in parentheses.
8 (18.6%)
Intellectual disability: 5 (11.6%)
Patient Count: 5 (11.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (11.6%)
Epileptic encephalopathy: 4 (9.3%)
Patient Count: 4 (9.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (9.3%)
Speech delay: 4 (9.3%)
Patient Count: 4 (9.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (9.3%)