Variant: rs111033319

present in Gene: ATP8;COX3;COX1;ATP6;TRNS1;COX2 present in Chromosome: MT Position on Chromosome: 7466 Alleles of this Variant: C/-;CC

rs111033319 in ATP8;COX3;COX1;ATP6;TRNS1;COX2 gene and DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL PMID 15292920 2005 Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.

PMID 10094190 1999 Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

rs111033319 in ATP8;COX3;COX1;ATP6;TRNS1;COX2 gene and MELAS Syndrome PMID 7581383 1995 Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.