C586F (p.Cys586Phe) variant of DNMT3A (Q9Y6K1)
C586F (p.Cys586Phe) 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.
C586F (p.Cys586Phe) variant details
- p.Cys586Phe
- rs754506713
- ClinGen CA346071842
- ClinVar RCV001527373
- ExAC rs754506713
- 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)