Condition: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
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.
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.
rs1569484151 in
COX1;TRNS1;ATP8;ATP6;COX3;COX2 gene and
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
PMID 20722495 2010 Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
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.
rs724159989 in
COX3;COX2;COX1;ATP8;TRNS1;ATP6 gene and
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
PMID 20153673 2010 Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.
rs199474821 in
TRNS1;COX3;COX2;ATP8;COX1;ATP6 gene and
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
PMID 10371545 1999 Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.