T68I (p.Thr68Ile) variant of BLM (RecQ-like DNA helicase BLM)
T68I (p.Thr68Ile) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
T68I (p.Thr68Ile) variant details
- p.Thr68Ile
- cosmic curated COSV10743
- ESP rs144134597
- ExAC rs144134597
- TOPMed rs144134597
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available