C12* (p.Cys12Ter) variant of GLA (Alpha-galactosidase A)
C12* (p.Cys12Ter) 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.
C12* (p.Cys12Ter) variant details
- p.Cys12Ter
- rs869312283
- NCI-TCGA Cosmic COSV9951
- ClinVar RCV005644724
- gnomAD rs869312283
- 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)