R67* (p.Arg67Ter) variant of PAX6 (Paired box protein Pax-6)
R67* (p.Arg67Ter) in PAX6 (Paired box protein Pax-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.
R67* (p.Arg67Ter) variant details
- p.Arg67Ter
- rs775355156
- ClinGen CA10588517
- ClinVar RCV000255443
- ClinVar RCV006555742
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)