G45R (p.Gly45Arg) variant of GJB1 (Gap junction beta-1 protein)
G45R (p.Gly45Arg) 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 Neuropathy X. The record also includes published literature and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- rs2519797847
- ClinGen CA413501062
- ClinVar RCV002857937
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)