On this page, you will find information about a genetic change that was identified in a UDN participant. 

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Changes in this gene were identified in a male, age 4 with global developmental delay, brain abnormalities, seizures, and hearing and vision loss (read full description).

Date of Report

Mar 30, 2020

Full Name

transport and golgi organization 6 homolog

Chromosome 16 (16q22.1)



Database Links

GeneCards: GC16P068843

NCBI Gene: 79613 

UniProtKB/Swiss-Prot: Q9C0B7

Clinical Significance

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

Inheritance Pattern Autosomal recessive
Position (hg19) chr16: 68894224; chr16: 69117505
Transcript NM024562.1; NM024562.1
DNA Change c.532G>A; c.3226A>T
Protein Change p.Val178Ile, p. Met1076Leu
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