rs121918592
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | susceptibility to malignant hyperthermia |
| (C;G) | 3 | susceptibility to malignant hyperthermia |
| (G;G) | 0 | common |
| Make rs121918592(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38448712 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918592 |
| dbSNP (classic) | rs121918592 |
| ClinGen | rs121918592 |
| ebi | rs121918592 |
| HLI | rs121918592 |
| Exac | rs121918592 |
| Gnomad | rs121918592 |
| Varsome | rs121918592 |
| LitVar | rs121918592 |
| Map | rs121918592 |
| PheGenI | rs121918592 |
| Biobank | rs121918592 |
| 1000 genomes | rs121918592 |
| hgdp | rs121918592 |
| ensembl | rs121918592 |
| geneview | rs121918592 |
| scholar | rs121918592 |
| rs121918592 | |
| pharmgkb | rs121918592 |
| gwascentral | rs121918592 |
| openSNP | rs121918592 |
| 23andMe | rs121918592 |
| SNPshot | rs121918592 |
| SNPdbe | rs121918592 |
| MSV3d | rs121918592 |
| GWAS Ctlg | rs121918592 |
| Merged from | Rs28933997 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs121918592(A;A) rs121918592(C;C) |
| Alt | rs121918592(A;A) rs121918592(C;C) |
| Reference | Rs121918592(G;G) |
| Significance | Other |
| Disease | Malignant hyperthermia not provided Central core disease |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | Malignant hyperthermia, susceptibility to, 1 not provided Central core disease |
| Reversed | 0 |
| HGVS | NC_000019.9:g.38939352G>A; NC_000019.9:g.38939352G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013836.3, RCV000119406.1, RCV000174015.1, RCV000119407.1, |
rs121918592, aka c.1021G>A, c.1021G>C, p.Gly341Arg or p.G341R, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.
23andMe name for c.1021G>A: i5900460
[PMID 12059893] Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
[PMID 12434264] [Current aspects of the diagnosis of malignant hyperthermia].
[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.
[PMID 18564801] Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
[PMID 16732084] Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
