D45G (p.Asp45Gly) variant of IDS (Iduronate 2-sulfatase)
D45G (p.Asp45Gly) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- rs2520901934
- ClinGen CA414527795
- ClinVar RCV003222542
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- 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)