G52* (p.Gly52Ter) variant of NOTCH3 (Q9UM47)

G52* (p.Gly52Ter) in NOTCH3 (Q9UM47) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

G52* (p.Gly52Ter) variant details