{{Rsnum
|rsid=193922879
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=RYR1
|position=38580382
|Gene_s=RYR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=19
|CLNACC=RCV000022758.22
|CLNALLE=1
|CLNDBN=Minicore myopathy with external ophthalmoplegia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1290:C1850674:255320:598
|CLNHGVS=NC_000019.9:g.39071022G>A
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=180901.0036
|Disease=Minicore myopathy with external ophthalmoplegia
|FwdALT=A
|FwdREF=G
|GENEINFO=RYR1:6261
|GENE_ID=6261
|GENE_NAME=RYR1
|REF=G
|RSPOS=39071022
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050168000000000002100100
|WGT=0
|dbSNPBuildID=136
|rsid=193922879
}}{{PMID Auto
|PMID=18253926
|Title=Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
}}