rs118192178

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	malignant hyperthermia
(C;T)	3	malignant hyperthermia

Make rs118192178(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38500898

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192178
dbSNP (classic)	rs118192178
ClinGen	rs118192178
ebi	rs118192178
HLI	rs118192178
Exac	rs118192178
Gnomad	rs118192178
Varsome	rs118192178
LitVar	rs118192178
Map	rs118192178
PheGenI	rs118192178
Biobank	rs118192178
1000 genomes	rs118192178
hgdp	rs118192178
ensembl	rs118192178
geneview	rs118192178
scholar	rs118192178
google	rs118192178
pharmgkb	rs118192178
gwascentral	rs118192178
openSNP	rs118192178
23andMe	rs118192178
SNPshot	rs118192178
SNPdbe	rs118192178
MSV3d	rs118192178
GWAS Ctlg	rs118192178

Max Magnitude

3

aka c.7522C>T (p.Arg2508Cys or R2508C) and also c.7522C>G (p.Arg2508Gly or R2508G), both of which are considered pathogenic in either ClinVar and/or the RYR1-based database

23andMe name for c.7522C>T: i6017673

ClinVar
Risk	rs118192178(G;G) rs118192178(T;T)
Alt	rs118192178(G;G) rs118192178(T;T)
Reference	Rs118192178(C;C)
Significance	Other
Disease	not provided Central core disease Malignant hyperthermia
Variation	info
Gene	RYR1
CLNDBN	not provided Central core disease Malignant hyperthermia, susceptibility to, 1
Reversed	0
HGVS	NC_000019.9:g.38991538C>G; NC_000019.9:g.38991538C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000119717.1, RCV000056228.2, RCV000119718.1, RCV000178618.1,

OMIM	117000
Desc
Variant
Related	also

[PMID 12565913] Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.

[PMID 16732084] Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.