Variant: rs121908376 

    present in Gene: OPA1;LOC102724808
    present in Chromosome: 3
    Position on Chromosome: 193648109
    Alleles of this Variant: A/G

rs121908376 in OPA1;LOC102724808 gene and OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY PMID 16240368 2005 OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

PMID 20185555 2010 OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.

PMID 18158317 2008 OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

PMID 21112924 2011 Heterozygous OPA1 mutations in Behr syndrome.

PMID 15531309 2004 Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

PMID 18065439 2008 Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

PMID 18195150 2008 Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.