L6S (p.Leu6Ser) variant of GJB1 (Gap junction beta-1 protein)
L6S (p.Leu6Ser) 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. The record also includes published literature and structural context.
L6S (p.Leu6Ser) variant details
- p.Leu6Ser
- rs2092541936
- ClinGen CA413499331
- ClinVar RCV001207102
- Ensembl rs2092541936
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)