CDK18

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Date of Report

Sep 20, 2018

Full Name

cyclin dependent kinase 18

Location
Chromosome 1q32.1


Function

Cyclin-dependent kinases (CDKs) coordinate cell cycle checkpoints with DNA repair mechanisms that together maintain genome stability. CDK18 may play a role in signal pathways in cells (Malumbres et al. 2009).

Database Links

GeneCards: GC01P205504

NCBI Gene: 5129

OMIM: 169190

UniProtKB/Swiss-Prot: Q07002

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this de novo change is causing symptoms in this participant.

Gene CDK18
Inheritance Pattern Unknown
Position Chr1:205492739
Transcript NM_002596
DNA Change c.259C>T
Protein Change p.R87C
Contact Us

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