Variant: rs199474818 

    present in Gene: COX3;COX1;ATP6;COX2;ATP8
    present in Chromosome: MT
    Position on Chromosome: 7445
    Alleles of this Variant: A/C;G;T

rs199474818 in COX3;COX1;ATP6;COX2;ATP8 gene and DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL PMID 8019558 1994 A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

PMID 17659260 2007 Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.

PMID 18639500 2008 Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.

PMID 10577941 1999 Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

rs199474818 in COX3;COX1;ATP6;COX2;ATP8 gene and MELAS Syndrome PMID 8019558 1994 A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.