rs1047420796

This is a variant in the TRIT1 gene that changes a arginine to an glutamine.

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ClinVar annotation

Pathogenic★★★☆

5 submitters3 publications

Combined oxidative phosphorylation deficiency 35 (COXPD35); Inborn genetic diseases

About TRIT1

This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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