R164G (p.Arg164Gly) variant of GJB1 (Gap junction beta-1 protein)
R164G (p.Arg164Gly) 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 Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided. The record also includes published literature and structural context.
R164G (p.Arg164Gly) variant details
- p.Arg164Gly
- rs139643362
- ClinGen CA413502754
- ClinVar RCV000789806
- ESP rs139643362
- Uncertain significance
- Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)