K15* (p.Lys15Ter) variant of CDC73 (Parafibromin)
K15* (p.Lys15Ter) 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.
K15* (p.Lys15Ter) variant details
- p.Lys15Ter
- rs2527280954
- ClinGen CA343972812
- ClinVar RCV003500182
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)