I30T (p.Ile30Thr) variant of GJB1 (Gap junction beta-1 protein)
I30T (p.Ile30Thr) 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. The record also includes published literature and structural context.
I30T (p.Ile30Thr) variant details
- p.Ile30Thr
- rs104894817
- ClinGen CA413500858
- ClinVar RCV000789282
- ClinVar RCV001061206
- Pathogenic
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. (PMID 9818870)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)