S69* (p.Ser69Ter) variant of IDS (Iduronate 2-sulfatase)

Name: IDS S69* (p.Ser69Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

S69* (p.Ser69Ter) 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.

S69* (p.Ser69Ter) variant details

p.Ser69Ter
rs2124065847
ClinGen CA2499226402
ClinVar RCV001375631
Ensembl rs2124065847
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)