G43A (p.Gly43Ala) variant of GLA (Alpha-galactosidase A)
G43A (p.Gly43Ala) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FABRYD. The record also includes published literature and structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- rs797044500
- ClinGen CA273346
- ClinVar RCV000153325
- ClinVar RCV001193673
- Pathogenic
- in FABRYD
- Missense
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- 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)