G952A (p.Gly952Ala) variant of BLM (RecQ-like DNA helicase BLM)
G952A (p.Gly952Ala) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bloom syndrome. The record also includes published literature and structural context.
G952A (p.Gly952Ala) variant details
- p.Gly952Ala
- rs367543034
- ClinGen CA393846284
- ClinVar RCV002291105
- Likely pathogenic
- Bloom syndrome
- Missense
- ClinVar: Likely pathogenic (Bloom syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)