G34* (p.Gly34Ter) variant of CTNNB1 (Catenin beta-1)
G34* (p.Gly34Ter) in CTNNB1 (Catenin beta-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in hepatoblastoma. The record also includes structural context.
G34* (p.Gly34Ter) variant details
- p.Gly34Ter
- cosmic curated COSV62721
- Ensembl rs121913399
- Pathogenic
- in hepatoblastoma
- Stop Gained
- EBI: Pathogenic (in hepatoblastoma)
- UniProt: Pathogenic (in hepatoblastoma)
- Structural context available