Variant: rs199474820

present in Gene: COX1;ATP8;COX3;ATP6;TRNS1;COX2 present in Chromosome: MT Position on Chromosome: 7510 Alleles of this Variant: T/C

rs199474820 in COX1;ATP8;COX3;ATP6;TRNS1;COX2 gene and DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL PMID 10978361 2000 A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.

PMID 12471220 2002 Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.