D38R (p.Asp38Arg) variant of BMPR1A (P36894)
D38R (p.Asp38Arg) in BMPR1A (P36894) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
D38R (p.Asp38Arg) variant details
- p.Asp38Arg
- rs2539430767
- ClinGen CA2580082070
- ClinVar RCV002437923
- ClinVar RCV003336752
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)