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PLA2G4C

Synonyms
CPLA2-gamma
External resources
Summary
This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
27,370
Likely benign
2,014
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PLA2G4C gene.

Phenotype class
Patients in 3billion (%)

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