C70* (p.Cys70Ter) variant of TPMT (Thiopurine S-methyltransferase)
C70* (p.Cys70Ter) in TPMT (Thiopurine S-methyltransferase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
C70* (p.Cys70Ter) variant details
- p.Cys70Ter
- 1000Genomes rs186214874
- ExAC rs186214874
- TOPMed rs186214874
- gnomAD rs186214874
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available