rs570669053
This variant is located in the QRSL1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout QRSL1
Contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 40. [provided by Alliance of Genome Resources, Jul 2025]
View all QRSL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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