PRKAR1A - Gene browser

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

HCNC Approved Symbol: PRKAR1A (HGNC:9388)
Genomic Coordinates: 17:68,413,623 - 68,551,316 (17q24.2)
Synonyms: CNC1, PRKAR1, TSE1, PKR1, Prkar1alpha
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the PRKAR1A gene.

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

05
Patient count

Short stature: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Schwannoma: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Acromegalic growth: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Bicuspid aortic valve: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Coarse facies: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)