Q2* (p.Gln2Ter) variant of GLA (Alpha-galactosidase A)
Q2* (p.Gln2Ter) in GLA (Alpha-galactosidase A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- rs869312313
- ClinGen CA352509
- ClinVar RCV001293580
- Ensembl rs869312313
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)