R108* (p.Arg108Ter) variant of PAX8 (Paired box protein Pax-8)
R108* (p.Arg108Ter) in PAX8 (Paired box protein Pax-8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R108* (p.Arg108Ter) variant details
- p.Arg108Ter
- rs104893655
- ClinGen CA123459
- ClinVar RCV000014793
- Ensembl rs104893655
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. (PMID 9590296)