N16* (p.Asn16Ter) variant of MEF2C (Q06413)
N16* (p.Asn16Ter) in MEF2C (Q06413) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
N16* (p.Asn16Ter) variant details
- p.Asn16Ter
- rs1554150552
- ClinGen CA658796545
- ClinVar RCV000627395
- ClinVar RCV001374908
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)