Gene entry
UCHL1
ubiquitin C-terminal hydrolase L1
- Chromosome
- 4
- Cytoband
- 4p13
- Variants (rsID)
- 4
UCHL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4p13). Its official name is “ubiquitin C-terminal hydrolase L1”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs5030732Benignsingle nucleotide variantParkinson disease 5, autosomal dominant, susceptibility to|Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
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.