F51L (p.Phe51Leu) variant of GJB1 (Gap junction beta-1 protein)
F51L (p.Phe51Leu) 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 Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided. The record also includes published literature and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- rs2147945283
- ClinGen CA413501166
- ClinVar RCV001988871
- Ensembl rs2147945283
- Likely pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)