L25F (p.Leu25Phe) variant of GJB1 (Gap junction beta-1 protein)
L25F (p.Leu25Phe) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease X-linked dominant 1. The record also includes published literature and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- rs1602348662
- ClinGen CA413500774
- ClinVar RCV000789266
- ClinVar RCV001253613
- Conflicting interpretations
- Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease X-linked dominant 1
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease X-linke)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new… (PMID 8990008)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)