{{Rsnum
|rsid=193922856
|Chromosome=19
|Orientation=plus
|geno1=(-;-)
|geno2=(-;CAGCAGTGACGCGCGCTGGG)
|geno3=(CAGCAGTGACGCGCGCTGGG;CAGCAGTGACGCGCGCTGGG)
|Gene=RYR1
|position=38565347
|Gene_s=RYR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=19
|CLNACC=RCV000013870.23
|CLNALLE=1
|CLNDBN=Neuromuscular disease, congenital, with uniform type 1 fiber
|CLNDSDB=MedGen
|CLNDSDBID=C2674259
|CLNHGVS=NC_000019.9:g.39055987_39056006del20
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=180901.0034
|Disease=Neuromuscular disease
|FwdREF=CAGCAGTGACGCGCGCTGGG
|GENEINFO=RYR1:6261
|GENE_ID=6261
|GENE_NAME=RYR1
|REF=GCAGCAGTGACGCGCGCTGGG
|RSPOS=39055986
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD
|VC=DIV
|VP=0x050168000000000002100200
|WGT=0
|dbSNPBuildID=136
|rsid=193922856
}}{{PMID Auto
|PMID=17538032
|Title=Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.
}}