Y47* (p.Tyr47Ter) variant of AGL (Glycogen debranching enzyme)
Y47* (p.Tyr47Ter) in AGL (Glycogen debranching enzyme) 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.
Y47* (p.Tyr47Ter) variant details
- p.Tyr47Ter
- rs1057517347
- ClinGen CA16040821
- ClinVar RCV000409607
- Ensembl rs1057517347
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Glycogen Storage Disease Type III. (PMID 20301788)
- Cited in: Glycogen storage disease type III diagnosis and management guidelines. (PMID 20631546)