R1423S (p.Arg1423Ser) variant of KMT2D (O14686)
R1423S (p.Arg1423Ser) 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.
R1423S (p.Arg1423Ser) variant details
- p.Arg1423Ser
- rs2498430538
- ClinGen CA384647540
- ClinVar RCV002858281
- Likely pathogenic
- Kabuki syndrome
- Missense
- ClinVar: Likely pathogenic (Kabuki syndrome)
- EBI: Likely pathogenic (in KABUK1)
- UniProt: Likely pathogenic (in KABUK1)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)