CLDN14
Gene name: claudin 14OMIM ID: 605608
Chromosome location: 21q22.13
Mutations
| Disease/Phenotype | Deafness, autosomal recessive 29 |
|---|---|
| Reference transcript | NM_144492.2 |
| DNA Change | c.11C>T |
| A.A. Change | p.Thr4Met |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Charif M, Bakhchane A, Abidi O, Boulouiz R, Eloualid A, Roky R, Rouba H, Kandil M, Lenaers G, Barakat A.Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss. Gene. 2013 Jul 1;523(1):103-5. |