H70PfsX29 variant of IDS (Iduronate 2-sulfatase)
H70PfsX29 in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
H70PfsX29 variant details
- rs797044671
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available