Gene entry
PUS1
pseudouridine synthase 1
- Chromosome
- 12
- Cytoband
- 12q24.33
- Variants (rsID)
- 8
PUS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.33). Its official name is “pseudouridine synthase 1”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs142954643Benignsingle nucleotide variantMyopathy, lactic acidosis, and sideroblastic anemia 1|Sideroblastic anemia|Inborn mitochondrial myopathy
- rs201908893Benignsingle nucleotide variantMyopathy, lactic acidosis, and sideroblastic anemia 1
- rs202059921Benignsingle nucleotide variantMyopathy, lactic acidosis, and sideroblastic anemia 1|Myopathy, lactic acidosis, and sideroblastic anemia
- rs35461276Benignsingle nucleotide variantMyopathy, lactic acidosis, and sideroblastic anemia 1|Sideroblastic anemia|Inborn mitochondrial myopathy
- rs201441662Conflicting interpretationssingle nucleotide variantMyopathy, lactic acidosis, and sideroblastic anemia 1
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.