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.

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Changes in the CHKB gene were identified in a female, age 28 with Landau-Kleffner syndrome and progressive lower limb weakness (read full description).

Date of Report

Aug 25, 2021

Full Name

choline kinase beta

Location

Chromosome 22 (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: CHKB

NCBI Gene: 1120

OMIM: 612395

UniProtKB/Swiss-Prot: Q9Y259

Clinical Significance

Changes in this gene were identified in a UDN participant.

Gene CHKB

Inheritance Pattern Autosomal recessive

Position (hg19) chr22:g.51020982C>G & g.51021060G>A

Transcript NM_005198.4

DNA Change c.224+5G>C & c.151C>T

Protein Change N/A & p.Gln51Ter

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