C5062S (p.Cys5062Ser) variant of KMT2D (O14686)
C5062S (p.Cys5062Ser) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kabuki syndrome. The record also includes published literature and structural context.
C5062S (p.Cys5062Ser) variant details
- p.Cys5062Ser
- rs1942615152
- ClinGen CA384689318
- ClinVar RCV003754576
- Ensembl rs1942615152
- Likely pathogenic
- Kabuki syndrome
- Missense
- ClinVar: Likely pathogenic (Kabuki syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)