Y72* (p.Tyr72Ter) variant of MEF2C (Q06413)
Y72* (p.Tyr72Ter) in MEF2C (Q06413) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Y72* (p.Tyr72Ter) variant details
- p.Tyr72Ter
- rs2531278356
- ClinGen CA360424852
- ClinVar RCV003444481
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)