E69Q (p.Glu69Gln) variant of BLM (RecQ-like DNA helicase BLM)
E69Q (p.Glu69Gln) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E69Q (p.Glu69Gln) variant details
- p.Glu69Gln
- ExAC rs746195311
- TOPMed rs746195311
- gnomAD rs746195311
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available