C1036F (p.Cys1036Phe) variant of BLM (RecQ-like DNA helicase BLM)
C1036F (p.Cys1036Phe) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bloom syndrome. The record also includes published literature and structural context.
C1036F (p.Cys1036Phe) variant details
- p.Cys1036Phe
- rs137853153
- ClinGen CA253496
- ClinVar RCV000005790
- UniProt VAR 009140
- Pathogenic
- Bloom syndrome
- Missense
- ClinVar: Pathogenic (Bloom syndrome)
- EBI: Pathogenic (in BLM)
- UniProt: Pathogenic (in BLM)
- Structural context available
- Cited in: Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's… (PMID 9285778)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)