CHKB

On this page, you will find information about genetic changes that were 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 21, 2018

Full Name

choline kinase beta

Location
Chromosome 22q13.33


Function

The CHKB gene codes for a protein that has a key role in phospholipid creation (Aoyama et al. 2004).

Database Links

GeneCards: GC22M050578

NCBI Gene: 1120

OMIM: 612395

UniProtKB/Swiss-Prot: Q9Y259

Clinical Significance

Two changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene CHKB
Inheritance Pattern Autosomal recessive
Position Chr22: 51020982; Chr22:51021060
Transcript N/A; NM_005198
DNA Change c.224+5G>C; c.151C>T
Protein Change extended splice; p.Q51X
Contact Us

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