R306C (p.Arg306Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
R306C (p.Arg306Cys) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rett syndrome. The record also includes published literature and structural context.
R306C (p.Arg306Cys) variant details
- p.Arg306Cys
- rs28935468
- ClinGen CA212529
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- Pathogenic
- Rett syndrome
- Missense
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. (PMID 10577905)
- Cited in: Mutation screening in Rett syndrome patients. (PMID 10745042)