{{Rsnum
|rsid=80356529
|Chromosome=3
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=OPA1
|position=193643996
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=OPA1
}}{{omim
|id=605290
|rsnum=80356529
|variant=0011
}}{{ClinVar
|rsid=80356529
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=193361785
|CHROM=3
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=OPA1:4976
|GENE_NAME=OPA1
|GENE_ID=4976
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.193361785G>A
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=1638; NBK1248; 605290.0011
|CLNSIG=5
|CLNCUI=C1852267; C1852267
|CLNDBN=Optic Atrophy Type 1; not provided
|Disease=Optic Atrophy Type 1; not provided
|CLNACC=RCV000005396.1; RCV000081749.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1248:C1852267:125250:3212
}}{{PMID Auto
|PMID=16158
|Title=[Biologically active substances, prostaglandins and kinins, and their role in the regulation of arterial pressure and the development of arterial hypertension].
}}

{{PMID Auto
|PMID=12566046
|Title=A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.
}}

{{PMID Auto
|PMID=14644237
|Title=The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.
}}

{{PMID Auto
|PMID=15531309
|Title=Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.
}}

{{PMID Auto
|PMID=16240368
|Title=OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
}}

{{PMID Auto
|PMID=19029523
|Title=OPA1 in multiple mitochondrial DNA deletion disorders.
}}