G92* (p.Gly92Ter) variant of MECP2 (Methyl-CpG-binding protein 2)
G92* (p.Gly92Ter) in MECP2 (Methyl-CpG-binding protein 2) 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.
G92* (p.Gly92Ter) variant details
- p.Gly92Ter
- rs267608445
- ClinGen CA270309
- ClinVar RCV000133043
- ClinVar RCV005886948
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)