{{Rsnum
|rsid=118192174
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=RYR1
|position=38499961
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=118192174
|variant=0027
}}{{ClinVar
|rsid=118192174
|Reversed=0
|FwdREF=T
|FwdALT=A
|REF=T
|ALT=A
|RSPOS=38990601
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=RYR1:6261
|GENE_NAME=RYR1
|GENE_ID=6261
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.38990601T>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=180901.0027
|CLNSIG=5
|CLNCUI=C1850674
|CLNDBN=Minicore myopathy with external ophthalmoplegia
|Disease=Minicore myopathy with external ophthalmoplegia
|CLNACC=RCV000013861.23
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1290:C1850674:255320:598
}}{{PMID Auto
|PMID=7299413
|Title=Familial multicore disease with focal loss of cross-striations and ophthalmoplegia.
}}

{{PMID Auto
|PMID=16380615
|Title=Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
}}

{{PMID Auto
|PMID=18253
|Title=Studies of the actions of drugs affecting the central nervous system and of the relationship between nerve terminal ATPase activities and neurotransmitter release [proceedings].
|OA=1
}}

{{PMID Auto
|PMID=17033962
|Title=Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
|OA=1
}}

{{PMID Auto
|PMID=17365175
|Title=Functional effects of mutations identified in patients with multiminicore disease.
}}

{{PMID Auto
|PMID=17483490
|Title=Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
}}