Variant: rs80356529 

    present in Gene: OPA1
    present in Chromosome: 3
    Position on Chromosome: 193643996
    Alleles of this Variant: G/A;C

rs80356529 in OPA1 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs80356529 in OPA1 gene and Movement Disorders PMID 27150940 2016 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

PMID 26385429 2015 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

PMID 27656661 2016 A multiple sclerosis-like disorder in patients with OPA1 mutations.

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

PMID 26561570 2016 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

PMID 28841713 2017 Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

PMID 16158427 2005 Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

PMID 20157015 2010 Multi-system neurological disease is common in patients with OPA1 mutations.

PMID 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PMID 23384603 2013 Sensorineural hearing loss in OPA1-linked disorders.

PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PMID 14644237 2003 The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

rs80356529 in OPA1 gene and Muscle hypotonia PMID 16158427 2005 Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PMID 28841713 2017 Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

PMID 27656661 2016 A multiple sclerosis-like disorder in patients with OPA1 mutations.

PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

PMID 14644237 2003 The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

PMID 20157015 2010 Multi-system neurological disease is common in patients with OPA1 mutations.

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

PMID 26561570 2016 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

PMID 23384603 2013 Sensorineural hearing loss in OPA1-linked disorders.

PMID 27150940 2016 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

PMID 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PMID 26385429 2015 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

rs80356529 in OPA1 gene and OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

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

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

PMID 16240368 2005 OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

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

rs80356529 in OPA1 gene and Optic Atrophy 1 PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

PMID 22382025 2012 A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy.

PMID 11017079 2000 Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

PMID 11440989 2001 Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

PMID 18204809 2008 A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

PMID 12036970 2002 A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

PMID 16617242 2006 OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.

PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PMID 11017080 2000 OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

PMID 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PMID 16513463 2006 Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

PMID 23401657 2013 Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

PMID 18360822 2008 Reversible optic neuropathy with OPA1 exon 5b mutation.

PMID 19319978 2009 Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

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

PMID 15948788 2005 Dominant optic atrophy: correlation between clinical and molecular genetic studies.

PMID 19969356 2010 Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.

PMID 11810270 2001 Mutation spectrum and splicing variants in the OPA1 gene.

PMID 19325939 2009 Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

PMID 11440988 2001 OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.