G34A (p.Gly34Ala) variant of CTNNB1 (Catenin beta-1)
G34A (p.Gly34Ala) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in hepatoblastoma. The record also includes structural context.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- cosmic curated COSV62692
- ExAC rs28931589
- gnomAD rs28931589
- Pathogenic
- in hepatoblastoma
- Missense
- EBI: Pathogenic (in hepatoblastoma)
- UniProt: Pathogenic (in hepatoblastoma)
- Structural context available