E40D (p.Glu40Asp) variant of DNMT3A (Q9Y6K1)
E40D (p.Glu40Asp) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tatton-Brown-Rahman overgrowth syndrome. The record also includes published literature and structural context.
E40D (p.Glu40Asp) variant details
- p.Glu40Asp
- rs202118149
- ClinGen CA346251691
- ClinVar RCV003585552
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)