Q7* (p.Gln7Ter) variant of MEF2C (Q06413)
Q7* (p.Gln7Ter) in MEF2C (Q06413) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs2532814429
- ClinGen CA360425327
- ClinVar RCV003335912
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available