Gene entry
MRPS22
mitochondrial ribosomal protein S22
- Chromosome
- 3
- Cytoband
- 3q23
- Variants (rsID)
- 3
MRPS22 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q23). Its official name is “mitochondrial ribosomal protein S22”. The reference table lists 3 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs377459479Conflicting interpretationssingle nucleotide variantHypotonia with lactic acidemia and hyperammonemia
- rs119478059Pathogenicsingle nucleotide variantHypotonia with lactic acidemia and hyperammonemia
- rs147739245Uncertain significancesingle nucleotide variantHypotonia with lactic acidemia and hyperammonemia
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
