R8* (p.Arg8Ter) variant of IDS (Iduronate 2-sulfatase)

Name: IDS R8* (p.Arg8Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

R8* (p.Arg8Ter) 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.

R8* (p.Arg8Ter) variant details

p.Arg8Ter
rs1602750610
ClinGen CA414528693
ClinVar RCV001216081
TOPMed rs1602750610
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)