TBX2

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

Jun 04, 2018

Full Name

T-BOX 2

Location
Chromosome 17 (17q23.2)


Function

The TBX2 gene codes for a transcription factor that is thought to be important in regulating development (Harrelson et al., 2004).

Database Links

GeneCards: GC17P061399

NCBI Gene: 6909

OMIM: 600747

UniProtKB/Swiss-Prot: Q13207

Clinical Significance

A change in the TBX2 gene was identified in a UDN participant, his mother, his sister, and one other patient with similar symptoms (Liu et al. 2018).

The following change was identified in the UDN participant and his family members:

Gene TBX2
Inheritance Pattern autosomal dominant
Position chr17:59477596
Transcript NM_005994.3
DNA Change c.59G>A
Protein Change p.R20Q
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