Q10* (p.Gln10Ter) variant of BLM (RecQ-like DNA helicase BLM)
Q10* (p.Gln10Ter) in BLM (RecQ-like DNA helicase BLM) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
Q10* (p.Gln10Ter) variant details
- p.Gln10Ter
- rs776826506
- ClinGen CA7738226
- ClinVar RCV002635373
- ExAC rs776826506
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)