I23* (p.Ile23Ter) variant of NF1 (Neurofibromin)
I23* (p.Ile23Ter) in NF1 (Neurofibromin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
I23* (p.Ile23Ter) variant details
- p.Ile23Ter
- rs1597625799
- ClinGen CA915949690
- ClinVar RCV001008734
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available