L25P (p.Leu25Pro) variant of GJB1 (Gap junction beta-1 protein)
L25P (p.Leu25Pro) 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.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- rs1602348665
- ClinGen CA413500781
- ClinVar RCV000789912
- Ensembl rs1602348665
- 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: Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of… (PMID 11438991)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)