A28C (p.Ala28Cys) variant of KMT2D (O14686)
A28C (p.Ala28Cys) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A28C (p.Ala28Cys) variant details
- p.Ala28Cys
- rs2498473176
- ClinGen CA2580086334
- ClinVar RCV002875641
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)