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TSSK4

Synonyms
C14orf20, STK22E, TSK-4, TSK4, TSSK5
External resources
Summary
This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.

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
4,504
Likely benign
256
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TSSK4 gene.

Phenotype class
Patients in 3billion (%)

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