Q66* (p.Gln66Ter) variant of IDS (Iduronate 2-sulfatase)
Q66* (p.Gln66Ter) in IDS (Iduronate 2-sulfatase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q66* (p.Gln66Ter) variant details
- p.Gln66Ter
- rs1557340403
- ClinGen CA414527410
- ClinVar RCV000625940
- Ensembl rs1557340403
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)