{{Rsnum
|rsid=148772854
|Chromosome=19
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RYR1
|position=38543804
|Gene_s=RYR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CAF=0.9949; 0.005051
|CHROM=19
|CLNACC=RCV000022759.23; RCV000079122.1
|CLNALLE=1
|CLNDBN=Minicore myopathy with external ophthalmoplegia; AllHighlyPenetrant
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1290:C1850674:255320:598; CN169374
|CLNHGVS=NC_000019.9:g.39034444C>T
|CLNSIG=5
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=10633; 180901.0037
|COMMON=1
|Disease=Minicore myopathy with external ophthalmoplegia; AllHighlyPenetrant
|FwdALT=T
|FwdREF=C
|GENEINFO=RYR1:6261
|GENE_ID=6261
|GENE_NAME=RYR1
|REF=C
|RSPOS=39034444
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000040416110100
|WGT=0
|dbSNPBuildID=134
|rsid=148772854
}}