W34* (p.Trp34Ter) variant of CDKN2A (Tumor suppressor ARF)
W34* (p.Trp34Ter) in CDKN2A (Tumor suppressor ARF) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W34* (p.Trp34Ter) variant details
- p.Trp34Ter
- rs1820531050
- cosmic curated COSV10527
- ClinGen CA373086943
- ClinVar RCV001090490
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)