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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.

Frequently observed phenotypes

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

Anteverted nares
 1 (25.0%)
Atonic seizures
 1 (25.0%)
Generalized seizures
 1 (25.0%)
Global development delay
 1 (25.0%)
Hepatomegaly
 1 (25.0%)
PPP3CA - Gene browser | 3billion