D10H (p.Asp10His) variant of CHD8 (Q9HCK8)
D10H (p.Asp10His) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified.
D10H (p.Asp10His) variant details
- p.Asp10His
- ExAC rs767231058
- TOPMed rs767231058
- gnomAD rs767231058
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance