G224A (p.Gly224Ala) variant of IDS (Iduronate 2-sulfatase)
G224A (p.Gly224Ala) 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.
G224A (p.Gly224Ala) variant details
- p.Gly224Ala
- rs2520862765
- ClinGen CA414522210
- ClinVar RCV003509088
- 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)