R9* (p.Arg9Ter) variant of CDC73 (Parafibromin)
R9* (p.Arg9Ter) in CDC73 (Parafibromin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R9* (p.Arg9Ter) variant details
- p.Arg9Ter
- rs121434262
- ClinGen CA252644
- cosmic curated COSV66467
- ClinVar RCV000003425
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (PMID 12434154)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)