N23D (p.Asn23Asp) variant of ASXL1 (Polycomb group protein ASXL1)
N23D (p.Asn23Asp) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
N23D (p.Asn23Asp) variant details
- p.Asn23Asp
- Ensembl rs2122810052
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available