D46V (p.Asp46Val) variant of GJB1 (Gap junction beta-1 protein)
D46V (p.Asp46Val) 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.
D46V (p.Asp46Val) variant details
- p.Asp46Val
- rs1602348820
- ClinGen CA413501081
- ClinVar RCV001960990
- Ensembl rs1602348820
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)