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CADPS

Synonyms
CADPS1, CAPS, CAPS1, UNC-31
External resources
Summary
This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described.

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
44,128
Likely benign
7,786
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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