{{Rsnum
|rsid=118192173
|Chromosome=19
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RYR1
|position=38443612
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=118192173
|variant=0026
}}{{ClinVar
|rsid=118192173
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=38934252
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=RYR1:6261
|GENE_NAME=RYR1
|GENE_ID=6261
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.38934252C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=180901.0026
|CLNSIG=5
|CLNCUI=C1850674
|CLNDBN=Minicore myopathy with external ophthalmoplegia
|Disease=Minicore myopathy with external ophthalmoplegia
|CLNACC=RCV000013860.23
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1290:C1850674:255320:598
}}{{PMID Auto
|PMID=16380615
|Title=Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
}}

{{PMID Auto
|PMID=16940
|Title=Aminoglycoside antibiotics and renal function: changes in urinary gamma-glutamyltransferase excretion.
|OA=1
}}

{{PMID Auto
|PMID=16940308
|Title=Characterization of recessive RYR1 mutations in core myopathies.
}}

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

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