N46D (p.Asn46Asp) variant of BLM (RecQ-like DNA helicase BLM)
N46D (p.Asn46Asp) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
N46D (p.Asn46Asp) variant details
- p.Asn46Asp
- rs2505390232
- ClinGen CA393839427
- ClinVar RCV002383662
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)