CDK19

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.

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A change in this gene was identified in a female, age 25 with severe intellectual disability, seizures, and absent speech (read full description).

Date of Report

Jun 29, 2020

Full Name

cyclin dependent kinase 19

Location
Chromosome 6 (6q21)
cdk19location.png

Function

CDK19, also known as cyclin dependent kinase 19, encodes for a protein that, in conjunction with its paralog CDK8 and other proteins, form a CDK module. This multi-protein complex regulates RNA polymerase II and transcriptional activity (Chung et al., 2020).

Database Links

GeneCards: GC06M110609

NCBI Gene: 23097

OMIM: 614720

UniProtKB/Swiss-Prot: Q9BWU1

Clinical Significance

A change in this gene was identified in a UDN participant.

Gene CDK19
Inheritance Pattern de novo
Position Chr6: 110632090
Transcript NM_015076.4
DNA Change c.586A>G
Protein Change p.Thr196Ala
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