N45D (p.Asn45Asp) variant of BLM (RecQ-like DNA helicase BLM)
N45D (p.Asn45Asp) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Bloom syndrome. The record also includes published literature and structural context.
N45D (p.Asn45Asp) variant details
- p.Asn45Asp
- rs2505390218
- ClinGen CA393839413
- ClinVar RCV003614891
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Bloom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)