L36V (p.Leu36Val) variant of GJB1 (Gap junction beta-1 protein)
L36V (p.Leu36Val) 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 Neuropathy X; not provided. The record also includes published literature and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- rs2092542516
- ClinGen CA413500946
- ClinVar RCV001351639
- ClinVar RCV001825975
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)