E47V (p.Glu47Val) variant of GJB1 (Gap junction beta-1 protein)
E47V (p.Glu47Val) 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.
E47V (p.Glu47Val) variant details
- p.Glu47Val
- rs1602348828
- ClinGen CA413501098
- ClinVar RCV001056724
- Ensembl rs1602348828
- 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)