L623P (p.Leu623Pro) variant of IDUA (Alpha-L-iduronidase)
L623P (p.Leu623Pro) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hurler syndrome; Mucopolysaccharidosis type 1; Familial hypokalemia-hypomagnesem. The record also includes published literature and structural context.
L623P (p.Leu623Pro) variant details
- p.Leu623Pro
- rs2153023287
- ClinGen CA355965948
- ClinVar RCV001824223
- ClinVar RCV001869832
- Pathogenic/Likely pathogenic
- Hurler syndrome; Mucopolysaccharidosis type 1; Familial hypokalemia-hypomagnesem
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hurler syndrome; Mucopolysaccharidosis type 1; Familial hypokale)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)