C85* (p.Cys85Ter) variant of PHF6 (PHD finger protein 6)
C85* (p.Cys85Ter) in PHF6 (PHD finger protein 6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C85* (p.Cys85Ter) variant details
- p.Cys85Ter
- rs1114167289
- ClinGen CA414711526
- ClinVar RCV000491322
- Ensembl rs1114167289
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available