{{Rsnum
|rsid=1801086
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Orientation=plus
|Chromosome=19
|position=38446710
|Gene=RYR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{PharmGKB
|RSID=rs1801086
|Name_s=RYR1:ARG248GLY
|Gene_s=RYR1
|Feature=
|Evidence=PubMed ID:11575529; PubMed ID:1354642
|Annotation=Malignant Hyperthermia Susceptibility.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145109
}}{{ClinVar
|rsid=1801086
|Reversed=0
|FwdREF=G
|FwdALT=A,C
|REF=G
|ALT=A,C
|RSPOS=38937350
|CHROM=19
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050368000000000102110100
|GENEINFO=RYR1:6261
|GENE_NAME=RYR1
|GENE_ID=6261
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.38937350G>A
|CLNORIGIN=0
|CLNSRCID=
180901.0002
|CLNSIG=255
|CLNCUI=
|CLNACC=
RCV000013831.1
|Tags=PM;PMC;S3D;SLO;GNO;OTHERKG;LSD;OM
|CLNDBN=Malignant hyperthermia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1146:C0024591:145600:423
|CLNSRC=OMIM Allelic Variant
|Disease=Malignant hyperthermia
}}{{PMID Auto
|PMID=16917943
|Title=Mutations in RYR1 in malignant hyperthermia and central core disease.
}}

{{PMID Auto
|PMID=18564801
|Title=Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
}}