C1208F (p.Cys1208Phe) variant of CHD8 (Q9HCK8)
C1208F (p.Cys1208Phe) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Intellectual developmental disorder with autism and macrocephaly. The record also includes published literature.
C1208F (p.Cys1208Phe) variant details
- p.Cys1208Phe
- rs2501900788
- ClinGen CA388899904
- ClinVar RCV003319569
- Pathogenic
- Intellectual developmental disorder with autism and macrocephaly
- Missense
- ClinVar: Pathogenic (Intellectual developmental disorder with autism and macrocephaly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: CHD8-Related Neurodevelopmental Disorder with Overgrowth. (PMID 36302072)