Q48* (p.Gln48Ter) variant of CHD8 (Q9HCK8)
Q48* (p.Gln48Ter) in CHD8 (Q9HCK8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- rs1555318734
- ClinGen CA388890829
- ClinVar RCV001008005
- ClinVar RCV001824911
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic