R69H (p.Arg69His) variant of KMT2E (Histone reader KMT2E)
R69H (p.Arg69His) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; O'Donnell-Luria-Rodan syndrome. The record also includes structural context.
R69H (p.Arg69His) variant details
- p.Arg69His
- TOPMed rs1490219422
- Uncertain significance
- Inborn genetic diseases; O'Donnell-Luria-Rodan syndrome
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; O'Donnell-Luria-Rodan syndrome)
- UniProt: Uncertain significance
- Structural context available