D1064V (p.Asp1064Val) variant of BLM (RecQ-like DNA helicase BLM)
D1064V (p.Asp1064Val) 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; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
D1064V (p.Asp1064Val) variant details
- p.Asp1064Val
- rs367543032
- ClinGen CA344522
- ClinVar RCV004519129
- ClinVar RCV005015170
- Likely pathogenic
- Bloom syndrome; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Likely pathogenic (Bloom syndrome; Hereditary cancer-predisposing 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)