Q72* (p.Gln72Ter) variant of MEFV (Pyrin)
Q72* (p.Gln72Ter) in MEFV (Pyrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q72* (p.Gln72Ter) variant details
- p.Gln72Ter
- rs1959115414
- ClinGen CA394483698
- ClinVar RCV001247730
- Ensembl rs1959115414
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)