{{Rsnum
|rsid=118192172
|Chromosome=19
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RYR1
|position=38457545
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=118192172
|variant=0001
}}{{ClinVar
|rsid=118192172
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=38948185
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=RYR1:6261
|GENE_NAME=RYR1
|GENE_ID=6261
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.38948185C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=180901.0001
|CLNSIG=255
|CLNCUI=C0024591
|CLNDBN=Malignant hyperthermia
|Disease=Malignant hyperthermia
|CLNACC=RCV000013830.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1146:C0024591:145600:423
}}

[[rs118192172]], aka p.Arg614Cys or p.R614C, is a SNP in the [[RYR1]] gene leading to increased susceptibility to [[malignant hyperthermia]] when heterozygous. Note, however, that although this mutation is listed in OMIM plus at least two consensus lists of causative mutations for MH, there is a report [http://www.ncbi.nlm.nih.gov/pubmed/?term=24195946] of a 62 year old female carrying this variant who had "no family or personal history of MH, despite having surgery with general anesthesia thrice".

{{PMID Auto
|PMID=75
|Title=Characteristics of the dephosphorylated form of phosphorylase purified from rat liver and measurement of its activity in crude liver preparations.
}}

{{PMID Auto
|PMID=1774074
|Title=A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
}}

{{PMID Auto
|PMID=7586638
|Title=A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.
}}

{{PMID Auto
|PMID=7762556
|Title=Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.
|OA=1
}}

{{PMID Auto
|PMID=7889656
|Title=Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.
}}

{{PMID Auto
|PMID=8401544
|Title=No C1840 to T mutation in RYR1 in malignant hyperthermia.
}}

{{PMID Auto
|PMID=9520251
|Title=Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.
}}

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