Gene entry
UPB1
beta-ureidopropionase 1
- Chromosome
- 22
- Cytoband
- 22q11.23
- Variants (rsID)
- 21
UPB1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q11.23). Its official name is “beta-ureidopropionase 1”. The reference table lists 21 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs118163237Conflicting interpretationssingle nucleotide variantDeficiency of beta-ureidopropionase
- rs143493067Conflicting interpretationssingle nucleotide variantDeficiency of beta-ureidopropionase
- rs34035085Conflicting interpretationssingle nucleotide variantDeficiency of beta-ureidopropionase
- rs145766755Uncertain significancesingle nucleotide variantDeficiency of beta-ureidopropionase
- rs200145797Uncertain significancesingle nucleotide variantDeficiency of beta-ureidopropionase
- rs2232866Not classifiedintron_variant
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.