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CALM3

Synonyms
CALM, CAM1, CAM2, CAMB, CPVT6, CaM, CaMIII, HEL-S-72, LQT16, PHKD, PHKD3
External resources
Summary
This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
253
Likely benign
1,472
Benign
632

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CALM3 gene.

Phenotype class
Patients in 3billion (%)

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