{{Rsnum
|rsid=193922886
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=RYR1
|position=38583494
|Gene_s=RYR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=19
|CLNACC=RCV000013859.22
|CLNALLE=1
|CLNDBN=Minicore myopathy with external ophthalmoplegia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1290:C1850674:255320:598
|CLNHGVS=NC_000019.9:g.39074134A>G
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=180901.0025
|Disease=Minicore myopathy with external ophthalmoplegia
|FwdALT=G
|FwdREF=A
|GENEINFO=RYR1:6261
|GENE_ID=6261
|GENE_NAME=RYR1
|REF=A
|RSPOS=39074134
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050168000000000002100100
|WGT=0
|dbSNPBuildID=136
|rsid=193922886
}}{{PMID Auto
|PMID=12719381
|Title=A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
}}