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.

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Changes in the THGL1 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: THG1L

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 (hg19) chr5:g.157158585C>A & chr5:g.157159997G>A

Transcript NM_017872.4

DNA Change c.137C>A & c.313G>A

Protein Change p.Thr46Asn & p.Asp105Asn

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