Q83* (p.Gln83Ter) variant of MECP2 (Methyl-CpG-binding protein 2)
Q83* (p.Gln83Ter) in MECP2 (Methyl-CpG-binding protein 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q83* (p.Gln83Ter) variant details
- p.Gln83Ter
- rs2148666695
- ClinGen CA415177286
- ClinVar RCV001939126
- Ensembl rs2148666695
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)