ATP7B rs137853287: What Your Genotype Means
The rs137853287 variant is a specific genetic change located within the ATP7B gene. It is currently identified in genetic databases as a marker associated with carrier status for Wilson disease, a rare inherited condition involving copper metabolism.
What each genotype means
Typical ATP7B genotype
This genotype represents the most common sequence found at this location in the ATP7B gene. It is not associated with the development of Wilson disease, which is an autosomal recessive condition requiring two pathogenic variants.
This is the most common genotype observed across all global populations.
Wilson disease carrier status
This genotype indicates you carry one copy of this variant in the ATP7B gene. Because Wilson disease is an autosomal recessive condition, carrying a single variant typically does not cause the disease, though you should discuss your results with a genetic counselor or clinician to understand your specific risk profile.
This genotype is rare in the general population.
Potential Wilson disease risk
This genotype indicates the presence of two copies of this variant. Because Wilson disease is an autosomal recessive disorder, individuals with two pathogenic variants in the ATP7B gene may be at risk for copper metabolism dysfunction; please consult with a medical professional for clinical evaluation and diagnostic testing.
This genotype is extremely rare in the general population.
Understanding the Variant and Its Location
The variant rs137853287 is a single nucleotide polymorphism (SNP) found within the ATP7B gene. This gene is located on chromosome 13 at position 13q14.3. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. Because this variant is situated within the coding region of the ATP7B gene, researchers study it to determine if it alters the structure or function of the protein that the gene produces. The ATP7B gene is relatively large, consisting of 26 exons, and variations across this sequence can have different impacts on how the body manages essential minerals. Scientists track these specific locations to better understand the genetic architecture of metabolic disorders.
The Role of the ATP7B Gene
The ATP7B gene provides the essential instructions for creating a protein known as copper-transporting ATPase 2. This protein belongs to the P-type ATPase family and plays a critical role in maintaining copper homeostasis within the human body. Its primary function is to transport copper out of cells, particularly facilitating the movement of copper from the liver into the bile for excretion. When the ATP7B protein is not functioning correctly due to genetic mutations, copper cannot be properly processed or removed from the body. This leads to the toxic accumulation of copper in vital organs, including the liver, brain, and eyes. Understanding the normal function of this gene is key to grasping why specific variants are studied in the context of metabolic health.
Research and Evidence Strength
Research into the ATP7B gene has identified hundreds of distinct mutations associated with Wilson disease, an autosomal recessive disorder. The evidence strength for specific variants like rs137853287 is often categorized as moderate, meaning that while there is a documented association with carrier status, ongoing clinical and functional studies are required to fully characterize its impact. Because Wilson disease is recessive, an individual typically needs to inherit two copies of a pathogenic variant—one from each parent—to manifest the condition. A carrier, by contrast, possesses only one copy and generally does not show symptoms. Current research focuses on distinguishing between benign variants and those that significantly impair protein function, helping clinicians interpret genetic test results more accurately.
Population Frequency and Distribution
The rs137853287 variant is classified as rare in the general population. Genetic databases like gnomAD provide insights into how frequently specific alleles appear across different ancestral groups. For rare variants, the frequency is often very low, sometimes appearing in only a tiny fraction of the population. Because of this rarity, it can be challenging for researchers to gather large-scale data to confirm the exact clinical significance of the variant across diverse ethnicities. The distribution of ATP7B mutations is known to vary significantly by region and ethnic background, with some populations having specific 'hotspot' mutations that are more common than others. Consequently, the rarity of rs137853287 underscores the importance of large, collaborative genetic studies to improve our understanding of its prevalence.
Interpreting Your Genetic Information
If you have received information about your status regarding the rs137853287 variant, it is important to understand what this means in a clinical context. Being a carrier for a recessive condition like Wilson disease typically does not cause health issues, but it is information that can be relevant for family planning. Genetic information is complex, and a single variant should not be used to diagnose a medical condition or predict health outcomes in isolation. If you are concerned about your results or have a family history of copper metabolism disorders, you should consult with a qualified healthcare provider or a genetic counselor. They can help you interpret these findings, discuss the necessity of further diagnostic testing, and provide guidance based on your specific medical history and clinical needs.
How common is this variant?
The rs137853287 variant is considered rare across global populations, with limited data available to establish precise frequency estimates for specific ancestral groups.
Frequently asked questions
What is Wilson disease?
Wilson disease is a rare, inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. It is caused by mutations in the ATP7B gene that prevent the body from properly excreting excess copper.
Does being a carrier mean I have the disease?
No, being a carrier for an autosomal recessive condition like Wilson disease typically means you have one copy of a variant and one normal copy of the gene. Carriers generally do not experience symptoms of the disease.
Should I be worried about this variant?
Genetic variants are common, and many have no impact on your health. If you are concerned about your carrier status, the best step is to speak with a genetic counselor or your primary care physician to discuss your results.
How is Wilson disease diagnosed?
Diagnosis typically involves a combination of physical exams, blood tests to check copper and ceruloplasmin levels, and sometimes genetic testing. A doctor will evaluate clinical symptoms and laboratory results to make a diagnosis.
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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