Q96* (p.Gln96Ter) variant of CREBBP (CREB-binding protein)
Q96* (p.Gln96Ter) 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.
Q96* (p.Gln96Ter) variant details
- p.Gln96Ter
- rs587783476
- ClinGen CA271381
- cosmic curated COSV52120
- ClinVar RCV000145732
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)