QRSL1 Chromosome 6
Glutaminyl-tRNA amidotransferase subunit QRSL1
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What This Gene Does
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]
Gene Info
Gene Group
Glutamyl-tRNA amidotransferase subunits
Locus Type
gene with protein product
Location
6q21
Ensembl
ENSG00000130348
Associated Conditions (4)
Inborn genetic diseases
Cardiomyopathy
mitochondrial
Combined oxidative phosphorylation deficiency 40
Key Variants
RS1216388009
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143151340
Conflicting classifications of pathogenicity
Health Risk
RS1562173313
Conflicting classifications of pathogenicity
Cardiomyopathy, mitochondrial, Combined oxidative phosphorylation deficiency 40
Health Risk
RS201614446
Conflicting classifications of pathogenicity
Health Risk
RS72946534
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754881125
Likely pathogenic
Health Risk
RS1562169661
Pathogenic
Cardiomyopathy, mitochondrial, Cardiomyopathy
Health Risk
RS1777047446
Pathogenic
Combined oxidative phosphorylation deficiency 40, Combined oxidative phosphorylation deficiency 40
Health Risk
RS763443331
Pathogenic
Cardiomyopathy, mitochondrial, Combined oxidative phosphorylation deficiency 40
Health Risk
RS947204455
Pathogenic
Combined oxidative phosphorylation deficiency 40, Combined oxidative phosphorylation deficiency 40
Health Risk
RS1562168768
Pathogenic/Likely pathogenic
Cardiomyopathy, mitochondrial, Combined oxidative phosphorylation deficiency 40
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1216388009 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143151340 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1562173313 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, mitochondrial, Combined oxidative phosphorylation deficiency 40 |
| RS201614446 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS72946534 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754881125 | Health Risk | Likely pathogenic | — |
| RS1562169661 | Health Risk | Pathogenic | Cardiomyopathy, mitochondrial, Cardiomyopathy |
| RS1777047446 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 40, Combined oxidative phosphorylation deficiency 40 |
| RS763443331 | Health Risk | Pathogenic | Cardiomyopathy, mitochondrial, Combined oxidative phosphorylation deficiency 40 |
| RS947204455 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 40, Combined oxidative phosphorylation deficiency 40 |
| RS1562168768 | Health Risk | Pathogenic/Likely pathogenic | Cardiomyopathy, mitochondrial, Combined oxidative phosphorylation deficiency 40 |