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rs111033319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs111033319(-;-)
Make rs111033319(-;C)
Make rs111033319(C;C)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position7471
GeneACTR6
is asnp
is mentioned by
dbSNPrs111033319
ebirs111033319
HLIrs111033319
Exacrs111033319
Varsomers111033319
Maprs111033319
PheGenIrs111033319
hapmaprs111033319
1000 genomesrs111033319
hgdprs111033319
ensemblrs111033319
gopubmedrs111033319
geneviewrs111033319
scholarrs111033319
googlers111033319
pharmgkbrs111033319
gwascentralrs111033319
openSNPrs111033319
23andMers111033319
23andMe allrs111033319
SNP Nexus

SNPshotrs111033319
SNPdbers111033319
MSV3drs111033319
GWAS Ctlgrs111033319
Max Magnitude0
ClinVar
Risk rs111033319(C;C)
Alt rs111033319(C;C)
Reference rs111033319(;)
Significance Pathogenic
Disease Mitochondrial cytochrome c oxidase deficiency Deafness
Variation info
Gene
CLNDBN Mitochondrial cytochrome c oxidase deficiency Deafness, sensorineural, with neurologic features Deafness, nonsyndromic sensorineural, mitochondrial
Reversed 0
HGVS NC_012920.1:m.7471dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000010178.2, RCV000022905.2, RCV000035051.3,


[PMID 7581383] Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.


[PMID 9708714] Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472.


[PMID 9832034OA-icon.png] A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.


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


[PMID 11378827] Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.