I30M (p.Ile30Met) variant of GJB1 (Gap junction beta-1 protein)
I30M (p.Ile30Met) 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.
I30M (p.Ile30Met) variant details
- p.Ile30Met
- rs2519797709
- ClinGen CA413500861
- ClinVar RCV003129584
- 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 Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. (PMID 20301548)