V43E (p.Val43Glu) variant of GJB1 (Gap junction beta-1 protein)
V43E (p.Val43Glu) 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.
V43E (p.Val43Glu) variant details
- p.Val43Glu
- rs1555937059
- ClinGen CA413501030
- ClinVar RCV000654835
- Ensembl rs1555937059
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X)
- EBI: Variant of uncertain significance (in CMTX1)
- UniProt: Uncertain significance (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)