R164L (p.Arg164Leu) variant of GJB1 (Gap junction beta-1 protein)
R164L (p.Arg164Leu) 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.
R164L (p.Arg164Leu) variant details
- p.Arg164Leu
- rs1241595912
- ClinGen CA413502762
- ClinVar RCV001050378
- gnomAD rs1241595912
- Likely pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)