RYR1 rs118192144: Understanding This Genetic Variant
The rs118192144 variant is a rare genetic change located within the RYR1 gene. It is classified as a pathogenic variant associated with central core disease, a condition that affects muscle function.
What each genotype means
Typical RYR1 genotype
This genotype represents the common, non-pathogenic sequence at this specific location in the RYR1 gene. It is not associated with the increased risk for Central core disease or malignant hyperthermia linked to the pathogenic variant at this site.
This is the most common genotype found in the general population.
Carrier of pathogenic variant
This genotype indicates you carry one copy of the pathogenic variant associated with Central core disease. Because this condition can be inherited in an autosomal dominant manner, you should discuss these results with a genetic counselor or medical professional to understand your specific health risks and potential implications for family members.
This specific genotype is rare in the general population.
Pathogenic variant present
This genotype indicates the presence of the pathogenic variant on both copies of the RYR1 gene. This variant is linked to Central core disease, a congenital myopathy, and may also be associated with susceptibility to malignant hyperthermia. Please consult with a medical specialist or clinical geneticist to discuss the clinical significance of this finding for your health.
This genotype is extremely rare in the general population.
What is rs118192144?
The rs118192144 variant is a specific change in the DNA sequence of the RYR1 gene, located on chromosome 19. In genetic databases, this variant is identified by its rsID, which serves as a unique label for researchers to track specific positions in the human genome. This particular variant involves a substitution where one nucleotide is replaced by another, potentially altering the instructions the gene provides to the body. Because the RYR1 gene is exceptionally large, containing over 100 exons, researchers use these specific identifiers to pinpoint exactly where a mutation occurs. Understanding the location of a variant is the first step in determining how it might influence the production of proteins essential for muscle health.
The Role of the RYR1 Gene
The RYR1 gene provides the blueprint for the ryanodine receptor 1 protein. This protein acts as a critical calcium channel within skeletal muscle cells. For muscles to contract and relax properly, calcium ions must be released from storage areas inside the cell in a highly controlled manner. When the ryanodine receptor 1 protein functions correctly, it ensures that calcium flows exactly when needed to trigger movement. If the gene contains a pathogenic mutation, the resulting protein may be malformed, leading to a disruption in this calcium flow. This can cause calcium to leak continuously or prevent it from being released when the muscle needs to contract, which is the underlying mechanism for several muscle-related conditions.
Research and Clinical Associations
Scientific research has linked mutations in the RYR1 gene to a spectrum of neuromuscular conditions, including central core disease, multiminicore disease, and susceptibility to malignant hyperthermia. Central core disease is a congenital myopathy characterized by muscle weakness and specific changes visible in muscle tissue biopsies. The evidence for the pathogenicity of rs118192144 is considered moderate, based on its classification in clinical databases. While many RYR1 mutations are clustered in specific 'hot spots' of the protein, others are spread throughout the gene. Because the clinical presentation of RYR1-related conditions can be highly variable—ranging from mild weakness to severe impairment—researchers emphasize that the presence of a variant does not always predict the exact severity of symptoms in an individual.
Population Frequency
The rs118192144 variant is documented as a rare finding in the general population. Because it is rare, it is not commonly observed in large-scale genomic studies of diverse ancestral groups. Most information regarding this variant comes from clinical settings where individuals are tested due to symptoms of muscle weakness or other neuromuscular concerns. Because the variant is not common, there is limited data on how its frequency might differ across specific global populations. Geneticists continue to monitor such variants to better understand their distribution and the potential for different clinical outcomes in various ethnic groups.
Interpreting Genetic Information
If you have received information about this variant, it is important to understand that genetic testing results are complex and should be interpreted by a qualified healthcare professional, such as a genetic counselor or a neurologist. A pathogenic classification indicates that the variant is known to be associated with a specific condition, but it does not provide a complete picture of an individual's health. You cannot use this information to self-diagnose or predict the future course of a condition. If you are concerned about muscle health or have questions about your genetic report, please discuss these findings with your clinician. They can provide context based on your personal medical history and physical examinations, which are essential for understanding the clinical significance of any genetic finding.
How common is this variant?
The rs118192144 variant is considered rare across all major population groups.
Frequently asked questions
What is central core disease?
Central core disease is a rare, inherited neuromuscular condition that causes muscle weakness. It is named for the characteristic 'cores' found in muscle fibers when examined under a microscope.
Is rs118192144 always associated with symptoms?
Not necessarily. The clinical expression of RYR1 variants can be highly variable, and some individuals may have very mild symptoms or none at all, even if they carry a known pathogenic variant.
How is this variant tested?
This variant is typically identified through molecular genetic testing, such as sequencing of the RYR1 gene. This is usually ordered by a specialist after a clinical evaluation.
Can I change my risk if I have this variant?
Genetic variants are inherited and cannot be changed. However, managing symptoms and monitoring muscle health with a medical professional is the standard approach for those with identified genetic risks.
Sources & further reading
Educational information only, last refreshed 9/24/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Indicates carrier status for malignant hyperthermia susceptibility type 1 and recessive RYR1-related central core disease.
Well-characterized gain-of-function missense variant predisposing carriers to malignant hyperthermia crisis triggered by volatile inhaled anesthetics.
A well-characterized pathogenic missense mutation (p.Arg614Cys) triggering malignant hyperthermia susceptibility in response to halogenated volatile anesthetics and depolarizing muscle relaxants.
A variant in the RYR1 gene commonly referenced in clinical and consumer genomics databases.