rs118192164
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (T;T) | 3 | susceptibility to central core disease |
| Make rs118192164(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38525455 |
| Gene | LOC107985290, RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118192164 |
| dbSNP (classic) | rs118192164 |
| ClinGen | rs118192164 |
| ebi | rs118192164 |
| HLI | rs118192164 |
| Exac | rs118192164 |
| Gnomad | rs118192164 |
| Varsome | rs118192164 |
| LitVar | rs118192164 |
| Map | rs118192164 |
| PheGenI | rs118192164 |
| Biobank | rs118192164 |
| 1000 genomes | rs118192164 |
| hgdp | rs118192164 |
| ensembl | rs118192164 |
| geneview | rs118192164 |
| scholar | rs118192164 |
| rs118192164 | |
| pharmgkb | rs118192164 |
| gwascentral | rs118192164 |
| openSNP | rs118192164 |
| 23andMe | rs118192164 |
| SNPshot | rs118192164 |
| SNPdbe | rs118192164 |
| MSV3d | rs118192164 |
| GWAS Ctlg | rs118192164 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | Rs118192164(T;T) |
| Alt | Rs118192164(T;T) |
| Reference | Rs118192164(C;C) |
| Significance | Pathogenic |
| Disease | Central core disease not provided |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | Central core disease, autosomal recessive not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.39016095C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013854.24, RCV000119413.1, |
[PMID 12112081] A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
[PMID 16372898
] Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.
[PMID 17204937] Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.
