H1453R (p.His1453Arg) variant of KMT2D (O14686)
H1453R (p.His1453Arg) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Kabuki syndrome. The record also includes published literature and structural context.
H1453R (p.His1453Arg) variant details
- p.His1453Arg
- UniProt VAR 074232
- Pathogenic/Likely pathogenic
- not provided; Kabuki syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Kabuki syndrome)
- EBI: Variant of uncertain significance (in KABUK1)
- UniProt: Uncertain significance (in KABUK1)
- Structural context available
- Cited in: A mutation screen in patients with Kabuki syndrome. (PMID 21607748)
- Cited in: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. (PMID 20711175)