Variant: rs121908375 

    present in Gene: OPA1
    present in Chromosome: 3
    Position on Chromosome: 193637280
    Alleles of this Variant: G/A

rs121908375 in OPA1 gene and Optic Atrophy 1 PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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