D419H (p.Asp419His) variant of GBA1 (P04062)
D419H (p.Asp419His) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gaucher disease type II; Gaucher disease. The record also includes published literature and structural context.
D419H (p.Asp419His) variant details
- p.Asp419His
- UniProt VAR 032211
- Likely pathogenic
- Gaucher disease type II; Gaucher disease
- Missense
- ClinVar: Likely pathogenic (Gaucher disease type II; Gaucher disease)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Structural context available
- Cited in: Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. (PMID 16293621)
- Cited in: Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (PMID 10352942)