Gene entry
UBA1
ubiquitin like modifier activating enzyme 1
- Chromosome
- X
- Cytoband
- Xp11.3
- Variants (rsID)
- 7
UBA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.3). Its official name is “ubiquitin like modifier activating enzyme 1”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs143044923Benignsingle nucleotide variantInfantile-onset X-linked spinal muscular atrophy
- rs150574055Benignsingle nucleotide variantInfantile-onset X-linked spinal muscular atrophy
- rs2070169Benignsingle nucleotide variantInfantile-onset X-linked spinal muscular atrophy
- rs5906354Conflicting interpretationssingle nucleotide variantInfantile-onset X-linked spinal muscular atrophy
- rs80356546Pathogenicsingle nucleotide variantInfantile-onset X-linked spinal muscular atrophy
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.