MT-RNR1

Gene name: mitochondrially encoded 12S RNA
OMIM ID: 561000
Chromosome location: 12S rRNA

Mutations

Disease/Phenotype	Deafness, Nonsyndromic Sensorineural, Mitochondrial
Reference transcript	NC_012920.1
DNA Change	m.1555A>G
A.A. Change
Exon/Intron
Mutation Type	substitution
Reference	Nahili H, Charif M, Boulouiz R, Bounaceur S, Benrahma H, Abidi O, Chafik A, Rouba H, Kandil M, Barakat A.Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1071-4.

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