V23E (p.Val23Glu) variant of GJB1 (Gap junction beta-1 protein)
V23E (p.Val23Glu) 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.
V23E (p.Val23Glu) variant details
- p.Val23Glu
- rs1602348650
- ClinGen CA413500723
- ClinVar RCV001348443
- Ensembl rs1602348650
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)