PPP3CA - Gene browser

PPP3CA

protein phosphatase 3 catalytic subunit alpha

HCNC Approved Symbol: PPP3CA (HGNC:9314)
Genomic Coordinates: 4:101,023,418 - 101,347,526 (4q24)
Synonyms: CNA1, PPP2B, CALN, CALNA
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the PPP3CA gene.

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

04
Patient count

Anteverted nares: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Atonic seizures: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Generalized seizures: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Global development delay: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Hepatomegaly: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)