THG1L

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.

Changes in this gene were identified in a female, age 5 with seizures, ataxia, brain abnormalities, small head size (postnatal microcephaly), and severe expressive and receptive language delay (read full description).

Date of Report

Dec 16, 2019

Full Name

tRNA-histidine guanylyltransferase 1 like

Location
Chromosome 5 (5q33.3)


Function

The THG1L gene codes for a protein involved in the modification of tRNA (Gu, et al., 2003).

Database Links

GeneCards: GC05P157731

NCBI Gene: 54974 

UniProtKB/Swiss-Prot: Q9NWX6

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.

Gene THG1L
Inheritance Pattern Autosomal recessive
Position Chr5:157158585/ Chr5:157159997
Transcript NM_017872.4
DNA Change c.137C>A/ c.313G>A
Protein Change p.T46N/p.D105N
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