R23* (p.Arg23Ter) variant of DNMT3A (Q9Y6K1)
R23* (p.Arg23Ter) in DNMT3A (Q9Y6K1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes published literature and structural context.
R23* (p.Arg23Ter) variant details
- p.Arg23Ter
- rs2034255903
- ClinGen CA346254291
- ClinVar RCV001262399
- Ensembl rs2034255903
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)