G31* (p.Gly31Ter) variant of NFE2L2 (Q16236)
G31* (p.Gly31Ter) in NFE2L2 (Q16236) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IMDDHH.
G31* (p.Gly31Ter) variant details
- p.Gly31Ter
- Ensembl rs1553488015
- Pathogenic
- in IMDDHH
- Stop Gained
- EBI: Pathogenic (in IMDDHH)
- UniProt: Pathogenic (in IMDDHH)