rs118192170
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | susceptibility to malignant hyperthermia |
(T;T) | 0 | common in complete genomics |
Make rs118192170(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38584989 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs118192170 |
dbSNP (classic) | rs118192170 |
ClinGen | rs118192170 |
ebi | rs118192170 |
HLI | rs118192170 |
Exac | rs118192170 |
Gnomad | rs118192170 |
Varsome | rs118192170 |
LitVar | rs118192170 |
Map | rs118192170 |
PheGenI | rs118192170 |
Biobank | rs118192170 |
1000 genomes | rs118192170 |
hgdp | rs118192170 |
ensembl | rs118192170 |
geneview | rs118192170 |
scholar | rs118192170 |
rs118192170 | |
pharmgkb | rs118192170 |
gwascentral | rs118192170 |
openSNP | rs118192170 |
23andMe | rs118192170 |
SNPshot | rs118192170 |
SNPdbe | rs118192170 |
MSV3d | rs118192170 |
GWAS Ctlg | rs118192170 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs118192170(C;C) |
Alt | rs118192170(C;C) |
Reference | Rs118192170(T;T) |
Significance | Other |
Disease | Central core disease Malignant hyperthermia not provided |
Variation | info |
Gene | RYR1 |
CLNDBN | Central core disease Malignant hyperthermia, susceptibility to, 1 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.39075629T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013843.25, RCV000013844.3, RCV000119552.1, |
rs118192170, aka p.Ile4898Thr or p.I4898T, is a SNP in the RYR1 gene associated with both malignant hyperthermia and central core disease when heterozygous.
23andMe name: i6017636
[PMID 10097181] A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.
[PMID 11741831] Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.
[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.
[PMID 17081152] Malignant hyperthermia and central core disease causative mutations in Swedish patients.