R215P (p.Arg215Pro) variant of GJB1 (Gap junction beta-1 protein)
R215P (p.Arg215Pro) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li. The record also includes published literature and structural context.
R215P (p.Arg215Pro) variant details
- p.Arg215Pro
- rs864622215
- ClinGen CA349245
- ClinVar RCV000205076
- ClinVar RCV000236627
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-To)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. (PMID 20301548)