rs28933396
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | quite likely to have central core disease |
| (A;G) | 3 | can be associated with central core disease |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38499997 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933396 |
| dbSNP (classic) | rs28933396 |
| ClinGen | rs28933396 |
| ebi | rs28933396 |
| HLI | rs28933396 |
| Exac | rs28933396 |
| Gnomad | rs28933396 |
| Varsome | rs28933396 |
| LitVar | rs28933396 |
| Map | rs28933396 |
| PheGenI | rs28933396 |
| Biobank | rs28933396 |
| 1000 genomes | rs28933396 |
| hgdp | rs28933396 |
| ensembl | rs28933396 |
| geneview | rs28933396 |
| scholar | rs28933396 |
| rs28933396 | |
| pharmgkb | rs28933396 |
| gwascentral | rs28933396 |
| openSNP | rs28933396 |
| 23andMe | rs28933396 |
| SNPshot | rs28933396 |
| SNPdbe | rs28933396 |
| MSV3d | rs28933396 |
| GWAS Ctlg | rs28933396 |
| Max Magnitude | 6 |
rs28933396, aka p.Arg2435His or p.R2435H, is a SNP in the RYR1 gene associated with central core disease.
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
| ClinVar | |
|---|---|
| Risk | Rs28933396(A;A) rs28933396(T;T) |
| Alt | Rs28933396(A;A) rs28933396(T;T) |
| Reference | Rs28933396(G;G) |
| Significance | Pathogenic |
| Disease | Central core disease not provided |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | Central core disease not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.38990637G>A; NC_000019.9:g.38990637G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013832.17, RCV000119699.1, RCV000119700.1, |
[PMID 8220422] A mutation in the human ryanodine receptor gene associated with central core disease.
[PMID 9030597] Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle.
[PMID 12434] Neurochemical changes following the administration of depleters of biogenic monoamines.
[PMID 16732084] Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
[PMID 16835904] Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.
[PMID 19513315] A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.
[PMID 17483490] Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
