Gene entry
RARS2
arginyl-tRNA synthetase 2, mitochondrial
- Chromosome
- 6
- Cytoband
- 6q15
- Variants (rsID)
- 28
RARS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q15). Its official name is “arginyl-tRNA synthetase 2, mitochondrial”. The reference table lists 28 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs17850652Benignsingle nucleotide variantPontocerebellar hypoplasia type 6
- rs200228607Benignsingle nucleotide variantPontocerebellar hypoplasia type 6
- rs28381459Benignsingle nucleotide variantPontocerebellar hypoplasia type 6
- rs35862137Benignsingle nucleotide variantPontocerebellar hypoplasia type 6
- rs73496064Benignsingle nucleotide variantPontocerebellar hypoplasia type 6
- rs8802Benignsingle nucleotide variantCongenital disorder of glycosylation|Pontoneocerebellar hypoplasia|Pontocerebellar hypoplasia type 6
- rs142348911Conflicting interpretationssingle nucleotide variantPontocerebellar hypoplasia type 6
- rs145189950Conflicting interpretationssingle nucleotide variantPontocerebellar hypoplasia type 6
- rs147844153Conflicting interpretationssingle nucleotide variantPontocerebellar hypoplasia type 6
- rs199941996Conflicting interpretationssingle nucleotide variantPontocerebellar hypoplasia type 6
- rs568483789Conflicting interpretationssingle nucleotide variantPontocerebellar hypoplasia type 6
- rs144896612Likely pathogenicsingle nucleotide variant
- rs199728745Pathogenicsingle nucleotide variant
- rs199835443Pathogenicsingle nucleotide variantPontocerebellar hypoplasia type 6
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.