Gene entry
DARS2
aspartyl-tRNA synthetase 2, mitochondrial
- Chromosome
- 1
- Cytoband
- 1q25.1
- Variants (rsID)
- 14
DARS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q25.1). Its official name is “aspartyl-tRNA synthetase 2, mitochondrial”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs115051769Benignsingle nucleotide variantLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- rs141298312Benignsingle nucleotide variantLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- rs149660059Benignsingle nucleotide variantLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- rs2068871Benignsingle nucleotide variant
- rs371048800Conflicting interpretationssingle nucleotide variantLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- rs547708828Conflicting interpretationssingle nucleotide variantLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- rs121918208Pathogenicsingle nucleotide variantLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome|See cases
- rs121918210Pathogenicsingle nucleotide variantLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- rs142433332Pathogenicsingle nucleotide variantLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome|Dysmetria|Gait imbalance|Gait ataxia|10 conditions
- rs200670286Uncertain significancesingle nucleotide variantLeukoencephalopathy with brain stem and spinal cord involvement-high lactate 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.