K82* (p.Lys82Ter) variant of GLA (Alpha-galactosidase A)
K82* (p.Lys82Ter) in GLA (Alpha-galactosidase A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
K82* (p.Lys82Ter) variant details
- p.Lys82Ter
- rs1057516429
- ClinGen CA16042047
- ClinVar RCV000411879
- Ensembl rs1057516429
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely 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)