GJB3

Gene name: gap junction protein, beta 3, 31kDa
OMIM ID: 603324
Chromosome location: 1p34.3

Mutations

Disease/Phenotype	Deafness, autosomal recessive 1A
Reference transcript	NM_024009.2
DNA Change	c.357C>T
A.A. Change
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Nahili H, Ridal M, Boulouiz R, Abidi O, Imken L, Rouba H, Alami MN, Chafik A, Hassar M, Barakat A.Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness. Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1633-6.

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