L9W (p.Leu9Trp) variant of GJB1 (Gap junction beta-1 protein)
L9W (p.Leu9Trp) 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 disease. The record also includes published literature and structural context.
L9W (p.Leu9Trp) variant details
- p.Leu9Trp
- rs1569214971
- ClinGen CA413499416
- ClinVar RCV000789281
- Ensembl rs1569214971
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. (PMID 9818870)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)