A117G (p.Ala117Gly) variant of MECP2 (Methyl-CpG-binding protein 2)
A117G (p.Ala117Gly) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rett syndrome. The record also includes published literature and structural context.
A117G (p.Ala117Gly) variant details
- p.Ala117Gly
- rs2522106660
- ClinGen CA415176615
- ClinVar RCV003155620
- Likely pathogenic
- Rett syndrome
- Missense
- ClinVar: Likely pathogenic (Rett syndrome)
- 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)