R15P (p.Arg15Pro) variant of GJB1 (Gap junction beta-1 protein)
R15P (p.Arg15Pro) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Charcot-Marie-Tooth disease X-linked dominant 1. The record also includes published literature and structural context.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- rs863224974
- ClinGen CA413499524
- ClinVar RCV002289183
- ClinVar RCV002473363
- Likely pathogenic
- not provided; Charcot-Marie-Tooth disease X-linked dominant 1
- Missense
- ClinVar: Likely pathogenic (not provided; Charcot-Marie-Tooth disease X-linked dominant 1)
- EBI: Likely pathogenic (in CMTX1)
- UniProt: Likely 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)