RYR3 Chromosome 15
Ryanodine receptor 3
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What This Gene Does
The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"Ryanodine receptors|EF-hand domain containing"
Locus Type
gene with protein product
Location
15q13.3-q14
Ensembl
ENSG00000198838
Associated Conditions (10)
Epileptic encephalopathy
Flexion contracture
Congenital myopathy 20
Inborn genetic diseases
RYR3-related disorder
Congenital portosystemic shunt
Familial cancer of breast
See cases
Premature ovarian failure
Hydrops fetalis
Key Variants
RS111370716
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1314283337
Conflicting classifications of pathogenicity
Flexion contracture, Congenital myopathy 20, Flexion contracture
Health Risk
RS148818748
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS182972491
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy
Health Risk
RS187608290
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS187632363
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS189282419
Conflicting classifications of pathogenicity
Epileptic encephalopathy, RYR3-related disorder, Epileptic encephalopathy
Health Risk
RS191573523
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Congenital portosystemic shunt, Epileptic encephalopathy
Health Risk
RS199507912
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS199638420
Conflicting classifications of pathogenicity
Epileptic encephalopathy, RYR3-related disorder, Epileptic encephalopathy
Health Risk
RS199648816
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Congenital myopathy 20, Epileptic encephalopathy
Health Risk
RS199726068
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111370716 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1314283337 | Health Risk | Conflicting classifications of pathogenicity | Flexion contracture, Congenital myopathy 20, Flexion contracture |
| RS148818748 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS182972491 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS187608290 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS187632363 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS189282419 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, RYR3-related disorder, Epileptic encephalopathy |
| RS191573523 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Congenital portosystemic shunt, Epileptic encephalopathy |
| RS199507912 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS199638420 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, RYR3-related disorder, Epileptic encephalopathy |
| RS199648816 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Congenital myopathy 20, Epileptic encephalopathy |
| RS199726068 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS200006806 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS200294137 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Familial cancer of breast, Epileptic encephalopathy |
| RS200304191 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS200309704 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, RYR3-related disorder, Epileptic encephalopathy |
| RS200647737 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS201082522 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS201830013 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS201914506 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS202096363 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS369140231 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS369324246 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS369629619 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS370691735 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS371603240 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS372580668 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS374709083 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS375998723 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Congenital myopathy 20, Epileptic encephalopathy |
| RS377288128 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS562147027 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS567995390 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS569879011 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS571025757 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS61748999 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS61996331 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS61996335 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, RYR3-related disorder, Epileptic encephalopathy |
| RS751020610 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS752228470 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS753104655 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, See cases, Premature ovarian failure |
| RS757239023 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS759581452 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS770667248 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS774589130 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS774751337 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS777159610 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS781065862 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS2152767575 | Health Risk | Pathogenic | Hydrops fetalis, Hydrops fetalis |