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PRKACA

protein kinase cAMP-activated catalytic subunit alpha

HCNC Approved Symbol
PRKACA (HGNC:9380)
Genomic Coordinates
19:14,091,688 - 14,117,762 (19p13.12)
Synonyms
PKACa
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the PRKACA gene.

Frequently observed phenotypes

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

Atrioventricular septal defect
 1 (100.0%)
Hypoplastic aortic arch
 1 (100.0%)
Hypoplastic lungs
 1 (100.0%)
Pulmonary artery stenosis
 1 (100.0%)
Restrictive lung disease
 1 (100.0%)
PRKACA - Gene browser | 3billion