F193L (p.Phe193Leu) variant of GJB1 (Gap junction beta-1 protein)
F193L (p.Phe193Leu) 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 Peripheral neuropathy. The record also includes published literature and structural context.
F193L (p.Phe193Leu) variant details
- p.Phe193Leu
- rs1602349697
- ClinGen CA413503221
- cosmic curated COSV62139
- ClinVar RCV000789902
- Likely pathogenic
- Peripheral neuropathy
- Missense
- ClinVar: Likely pathogenic (Peripheral neuropathy)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth… (PMID 10737979)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)