L89V (p.Leu89Val) variant of GJB1 (Gap junction beta-1 protein)
L89V (p.Leu89Val) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth Neuropathy X; not provided. The record also includes published literature and structural context.
L89V (p.Leu89Val) variant details
- p.Leu89Val
- rs1602349029
- ClinGen CA413501704
- ClinVar RCV000796042
- ClinVar RCV001531786
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)