Q1133R (p.Gln1133Arg) variant of KDM6A (Lysine-specific demethylase 6A)
Q1133R (p.Gln1133Arg) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided; Kabuki syndrome 2. The record also includes population frequency data and structural context.
Q1133R (p.Gln1133Arg) variant details
- p.Gln1133Arg
- TOPMed rs1032859970
- Likely pathogenic
- not provided; Kabuki syndrome 2
- Missense
- ClinVar: Likely pathogenic (not provided; Kabuki syndrome 2)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available