S33* (p.Ser33Ter) variant of BLM (RecQ-like DNA helicase BLM)
S33* (p.Ser33Ter) in BLM (RecQ-like DNA helicase BLM) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S33* (p.Ser33Ter) variant details
- p.Ser33Ter
- 1000Genomes rs139282091
- ExAC rs139282091
- TOPMed rs139282091
- gnomAD rs139282091
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available