T57A (p.Thr57Ala) variant of BLM (RecQ-like DNA helicase BLM)
T57A (p.Thr57Ala) 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. The record also includes published literature and structural context.
T57A (p.Thr57Ala) variant details
- p.Thr57Ala
- rs2505390447
- ClinGen CA393839548
- ClinVar RCV003278207
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)