R19* (p.Arg19Ter) variant of ATM (Serine-protein kinase ATM)
R19* (p.Arg19Ter) in ATM (Serine-protein kinase ATM) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R19* (p.Arg19Ter) variant details
- p.Arg19Ter
- Ensembl rs1565344118
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available