N76S (p.Asn76Ser) variant of IDS (Iduronate 2-sulfatase)
N76S (p.Asn76Ser) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
N76S (p.Asn76Ser) variant details
- p.Asn76Ser
- rs2520900734
- ClinGen CA414527203
- ClinVar RCV002820802
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)