S34I (p.Ser34Ile) variant of KDM6A (Lysine-specific demethylase 6A)
S34I (p.Ser34Ile) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome 2. The record also includes published literature and structural context.
S34I (p.Ser34Ile) variant details
- p.Ser34Ile
- rs2519217214
- ClinGen CA2580100965
- ClinVar RCV002296611
- Uncertain significance
- Kabuki syndrome 2
- Missense
- ClinVar: Uncertain significance (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)