V43L (p.Val43Leu) variant of GJB1 (Gap junction beta-1 protein)
V43L (p.Val43Leu) 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.
V43L (p.Val43Leu) variant details
- p.Val43Leu
- rs1602348804
- ClinGen CA413501027
- ClinVar RCV001209014
- Ensembl rs1602348804
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X)
- EBI: Likely pathogenic (in CMTX1)
- UniProt: Likely pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)