I30N (p.Ile30Asn) variant of GJB1 (Gap junction beta-1 protein)
I30N (p.Ile30Asn) 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 disease X-linked dominant 1. The record also includes published literature and structural context.
I30N (p.Ile30Asn) variant details
- p.Ile30Asn
- rs104894817
- ClinGen CA255242
- ClinVar RCV000011181
- UniProt VAR 002029
- Pathogenic
- Charcot-Marie-Tooth disease X-linked dominant 1
- Missense
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease X-linked dominant 1)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of… (PMID 11438991)
- Cited in: New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. (PMID 7477983)