Q75* (p.Gln75Ter) variant of IDS (Iduronate 2-sulfatase)
Q75* (p.Gln75Ter) 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.
Q75* (p.Gln75Ter) variant details
- p.Gln75Ter
- rs2089503778
- ClinGen CA414527234
- ClinVar RCV001291749
- Ensembl rs2089503778
- 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)