T55R (p.Thr55Arg) variant of GJB1 (Gap junction beta-1 protein)
T55R (p.Thr55Arg) 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.
T55R (p.Thr55Arg) variant details
- p.Thr55Arg
- rs104894824
- ClinGen CA413501219
- ClinVar RCV000789253
- Ensembl rs104894824
- 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: Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. (PMID 12185164)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)