Gene entry
QARS1
glutaminyl-tRNA synthetase 1
- Chromosome
- 3
- Cytoband
- 3p21.31
- Variants (rsID)
- 4
QARS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.31). Its official name is “glutaminyl-tRNA synthetase 1”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs62621067Conflicting interpretationssingle nucleotide variantDiffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
- rs587777334Pathogenicsingle nucleotide variantDiffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
- rs147076980Uncertain significancesingle nucleotide variantDiffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.