Y54* (p.Tyr54Ter) variant of IDS (Iduronate 2-sulfatase)
Y54* (p.Tyr54Ter) in IDS (Iduronate 2-sulfatase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MPS2. The record also includes published literature and structural context.
Y54* (p.Tyr54Ter) variant details
- p.Tyr54Ter
- rs141088021
- ClinGen CA414527636
- ClinVar RCV001291746
- 1000Genomes rs141088021
- Pathogenic
- in MPS2
- Stop Gained
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)