R22P (p.Arg22Pro) variant of GJB1 (Gap junction beta-1 protein)
R22P (p.Arg22Pro) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. The record also includes published literature and structural context.
R22P (p.Arg22Pro) variant details
- p.Arg22Pro
- rs1060501002
- ClinGen CA413500702
- ClinVar RCV000789933
- TOPMed rs1060501002
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population. (PMID 10732813)
- Cited in: X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene. (PMID 8698335)