Variant (rsID / SNP)
rs5030732
rs5030732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UCHL1. Location: chromosome 4, position 41,259,633. Clinical significance in the table: Benign.
Reference-table entries
UCHL1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:41259633
- Cytoband
- 4p13
- HGVS
- NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)
- Allele change
- Missense_S18Y
Associated conditions / phenotypes
Parkinson disease 5, autosomal dominant, susceptibility to|Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.