R75* (p.Arg75Ter) variant of CREBBP (CREB-binding protein)
R75* (p.Arg75Ter) in CREBBP (CREB-binding protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R75* (p.Arg75Ter) variant details
- p.Arg75Ter
- rs2141496166
- ClinGen CA394562067
- cosmic curated COSV52113
- ClinVar RCV002276337
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)