D46G (p.Asp46Gly) variant of GJB1 (Gap junction beta-1 protein)
D46G (p.Asp46Gly) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease X-linked dominant 1. The record also includes published literature and structural context.
D46G (p.Asp46Gly) variant details
- p.Asp46Gly
- rs1602348820
- ClinGen CA413501083
- ClinVar RCV000789920
- ClinVar RCV003517267
- Likely pathogenic
- Charcot-Marie-Tooth disease X-linked dominant 1
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease X-linked dominant 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. (PMID 20301548)