G543R (p.Gly543Arg) variant of DNMT3A (Q9Y6K1)
G543R (p.Gly543Arg) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tatton-Brown-Rahman overgrowth syndrome. The record also includes published literature and structural context.
G543R (p.Gly543Arg) variant details
- p.Gly543Arg
- rs752222356
- ClinGen CA346072142
- ClinVar RCV003985952
- Pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- ClinVar: Pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)