H9Y (p.His9Tyr) variant of GLA (Alpha-galactosidase A)
H9Y (p.His9Tyr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fabry disease. The record also includes published literature and structural context.
H9Y (p.His9Tyr) variant details
- p.His9Tyr
- rs2520947587
- ClinGen CA413937842
- ClinVar RCV003093740
- Uncertain significance
- Fabry disease
- Missense
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)