Q57* (p.Gln57Ter) variant of GAA (Lysosomal alpha-glucosidase)
Q57* (p.Gln57Ter) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- rs1057516251
- ClinGen CA16041879
- ClinVar RCV000412122
- ClinVar RCV003488580
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)