E53* (p.Glu53Ter) variant of CDC73 (Parafibromin)
E53* (p.Glu53Ter) 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.
E53* (p.Glu53Ter) variant details
- p.Glu53Ter
- rs1675541893
- ClinGen CA343973083
- cosmic curated COSV10889
- ClinVar RCV001245622
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)