present in Gene: OPA1
present in Chromosome: 3
Position on Chromosome: 193631621
Alleles of this Variant: AA/-
rs794727804 in
OPA1 gene and
Dysmorphic features
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 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.
PMID 27656661 2016 A multiple sclerosis-like disorder in patients with OPA1 mutations.
PMID 26561570 2016 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
PMID 20157015 2010 Multi-system neurological disease is common in patients with OPA1 mutations.
PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.
PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.
PMID 27150940 2016 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
PMID 23384603 2013 Sensorineural hearing loss in OPA1-linked disorders.
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 16158427 2005 Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.
PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
rs794727804 in
OPA1 gene and
Muscle hypotonia
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 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 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 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.
PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.
PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
PMID 27656661 2016 A multiple sclerosis-like disorder in patients with OPA1 mutations.
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 26385429 2015 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.
PMID 27150940 2016 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.