Q78* (p.Gln78Ter) variant of CDKN1C (P49918)
Q78* (p.Gln78Ter) in CDKN1C (P49918) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q78* (p.Gln78Ter) variant details
- p.Gln78Ter
- rs2133785734
- ClinGen CA379147309
- cosmic curated COSV57832
- ClinVar RCV001382544
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)