T8I (p.Thr8Ile) variant of GJB1 (Gap junction beta-1 protein)
T8I (p.Thr8Ile) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. The record also includes published literature and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- rs1602348559
- ClinGen CA413499403
- ClinVar RCV000789209
- Ensembl rs1602348559
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease. (PMID 10938190)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)