I28N (p.Ile28Asn) variant of GJB1 (Gap junction beta-1 protein)
I28N (p.Ile28Asn) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMTX1. The record also includes population frequency data, published literature, and structural context.
I28N (p.Ile28Asn) variant details
- p.Ile28Asn
- rs768834663
- ClinGen CA337772
- ClinVar RCV000198281
- ClinVar RCV000756204
- Pathogenic
- in CMTX1
- Missense
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Population evidence available
- Structural context available
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)