C297F (p.Cys297Phe) variant of PHF6 (PHD finger protein 6)
C297F (p.Cys297Phe) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Borjeson-Forssman-Lehmann syndrome. The record also includes structural context.
C297F (p.Cys297Phe) variant details
- p.Cys297Phe
- rs2520644434
- ClinGen CA414707783
- ClinVar RCV002291089
- Pathogenic
- Borjeson-Forssman-Lehmann syndrome
- Missense
- ClinVar: Pathogenic (Borjeson-Forssman-Lehmann syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available