{{Rsnum
|rsid=118192169
|Chromosome=19
|Orientation=plus
|geno1=(-;-)
|geno2=(-;TTCTACAACAAGAGCGAGGAT)
|geno3=(TTCTACAACAAGAGCGAGGAT;TTCTACAACAAGAGCGAGGAT)
|Gene=RYR1
|position=38580445
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=118192169
|variant=0024
}}{{ClinVar
|rsid=118192169
|Reversed=0
|FwdREF=TTCTACAACAAGAGCGAGGAT
|FwdALT=
|REF=GTTCTACAACAAGAGCGAGGAT
|ALT=G
|RSPOS=39071084
|CHROM=19
|dbSNPBuildID=136
|SSR=0
|SAO=0
|VP=0x050168000000000002110200
|GENEINFO=RYR1:6261
|GENE_NAME=RYR1
|GENE_ID=6261
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.39071085_39071105del21
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=180901.0024
|CLNSIG=5
|CLNCUI=C0751951
|CLNDBN=Central core disease
|Disease=Central core disease
|CLNACC=RCV000013858.22
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1290:NBK1391:C0751951:117000:597:598:43152001
}}{{PMID|12566385}} Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.