Q73* (p.Gln73Ter) variant of PYGM (P11217)
Q73* (p.Gln73Ter) in PYGM (P11217) 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.
Q73* (p.Gln73Ter) variant details
- p.Gln73Ter
- rs1057517361
- ClinGen CA16041506
- ClinVar RCV000409722
- Ensembl rs1057517361
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)