H94Q (p.His94Gln) variant of GJB1 (Gap junction beta-1 protein)
H94Q (p.His94Gln) 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 Neuropathy X; not provided. The record also includes published literature and structural context.
H94Q (p.His94Gln) variant details
- p.His94Gln
- rs756000896
- ClinGen CA413501765
- ClinVar RCV000789911
- UniProt VAR 002070
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth… (PMID 11571214)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)