E47G (p.Glu47Gly) variant of GJB1 (Gap junction beta-1 protein)
E47G (p.Glu47Gly) 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.
E47G (p.Glu47Gly) variant details
- p.Glu47Gly
- rs1602348828
- ClinGen CA413501096
- ClinVar RCV000789197
- Ensembl rs1602348828
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)