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CLK3

Synonyms
PHCLK3, PHCLK3/152
External resources
Summary
This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9.

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
8,751
Likely benign
1,597
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CLK3 gene.

Phenotype class
Patients in 3billion (%)

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