C41* (p.Cys41Ter) variant of MEF2C (Q06413)
C41* (p.Cys41Ter) in MEF2C (Q06413) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C41* (p.Cys41Ter) variant details
- p.Cys41Ter
- Ensembl rs1554139771
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available