K8* (p.Lys8Ter) variant of PHF6 (PHD finger protein 6)
K8* (p.Lys8Ter) 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 published literature and structural context.
K8* (p.Lys8Ter) variant details
- p.Lys8Ter
- rs132630301
- ClinGen CA121344
- ClinVar RCV000011819
- Ensembl rs132630301
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. (PMID 12415272)