K124N (p.Lys124Asn) variant of GJB1 (Gap junction beta-1 protein)
K124N (p.Lys124Asn) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth Neuropathy X; not provided. The record also includes published literature and structural context.
K124N (p.Lys124Asn) variant details
- p.Lys124Asn
- rs876661119
- ClinGen CA413502068
- ClinVar RCV003005147
- UniProt VAR 002078
- Pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)
- Cited in: Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in… (PMID 10071100)