E29* (p.Glu29Ter) variant of GATA1 (Erythroid transcription factor)

E29* (p.Glu29Ter) in GATA1 (Erythroid transcription factor) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E29* (p.Glu29Ter) variant details