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 the CDK19 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)

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: CDK19

NCBI Gene: 23097

OMIM: 614720

UniProtKB/Swiss-Prot: Q9BWU1

Clinical Significance

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

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
CDK19	Unknown	chr6:g.110953293T>C	NM_015076.4	c.586A>G	p.Thr196Ala

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