D38G (p.Asp38Gly) variant of BMPR1A (P36894)
D38G (p.Asp38Gly) in BMPR1A (P36894) 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.
D38G (p.Asp38Gly) variant details
- p.Asp38Gly
- rs2539430825
- ClinGen CA2580082071
- ClinVar RCV002320687
- 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)