E29* (p.Glu29Ter) variant of CDC73 (Parafibromin)
E29* (p.Glu29Ter) 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.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- rs1131691698
- ClinGen CA343972911
- cosmic curated COSV66468
- ClinVar RCV000493922
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)