T50S (p.Thr50Ser) variant of BLM (RecQ-like DNA helicase BLM)
T50S (p.Thr50Ser) in BLM (RecQ-like DNA helicase BLM) is a missense change. The record also includes structural context.
T50S (p.Thr50Ser) variant details
- p.Thr50Ser
- cosmic curated COSV10075
- Ensembl rs2151146737
- Missense
- Structural context available