C1575S (p.Cys1575Ser) variant of KDM6B (Lysine-specific demethylase 6B)
C1575S (p.Cys1575Ser) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormal. The record also includes structural context.
C1575S (p.Cys1575Ser) variant details
- p.Cys1575Ser
- rs2544536369
- ClinGen CA397928455
- ClinVar RCV003150518
- Likely pathogenic
- Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormal
- Missense
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with coarse facies and mild distal s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available