G29* (p.Gly29Ter) variant of PHF6 (PHD finger protein 6)
G29* (p.Gly29Ter) 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.
G29* (p.Gly29Ter) variant details
- p.Gly29Ter
- rs2124198253
- ClinGen CA414710776
- ClinVar RCV003238668
- Ensembl rs2124198253
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available