D178N (p.Asp178Asn) variant of GJB1 (Gap junction beta-1 protein)
D178N (p.Asp178Asn) 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 not provided; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
D178N (p.Asp178Asn) variant details
- p.Asp178Asn
- rs1555937223
- ClinGen CA413503011
- ClinVar RCV000537790
- ClinVar RCV001531787
- Pathogenic
- not provided; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Pathogenic (not provided; 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)