GJB1
Gene name: gap junction protein, beta 1, 32kDaOMIM ID: 304040
Chromosome location: Xq13.1
Mutations
| Disease/Phenotype | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 |
|---|---|
| Reference transcript | NM_000166.5 |
| DNA Change | c.439delG |
| A.A. Change | p.Ala147ProfsX49 |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Meggouh F, Benomar A, Rouger H, Tardieu S, Birouk N, Tassin J, Barhoumi C, Yahyaoui M, Chkili T, Brice A, LeGuern E.The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. J Med Genet. 1998 Mar;35(3):251-2. |