Genetics University — Research, Education, Medical Genetics
Knowledge Hub

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.