K112* (p.Lys112Ter) variant of MECP2 (Methyl-CpG-binding protein 2)
K112* (p.Lys112Ter) 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.
K112* (p.Lys112Ter) variant details
- p.Lys112Ter
- rs267608398
- ClinGen CA232962
- ClinVar RCV000133072
- ClinVar RCV004527359
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: 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)