NEB rs1064794461: Understanding This Genetic Variant
The rs1064794461 variant is a genetic change located within the NEB gene, which is responsible for producing the nebulin protein. This variant is frequently documented in clinical databases, though its specific functional impact remains a subject of ongoing scientific study.
What each genotype means
Common genetic profile
This genotype represents the most frequently observed sequence at this position in the NEB gene. Current scientific literature does not associate this specific configuration with clinical disease or functional impairment in the NEB protein.
This is the most common genotype observed across global populations.
Common genetic profile
This genotype indicates the presence of one copy of the common allele and one copy of the alternative allele. There is no established evidence suggesting this specific combination results in altered muscle function or clinical pathology.
This genotype is found at varying frequencies across different ancestral groups, appearing as a common variation in population databases.
Common genetic profile
This genotype is frequently documented in clinical databases as a common variant. It is not considered a pathogenic mutation for nemaline myopathy or other NEB-related disorders based on current research data.
This genotype is widely distributed and commonly observed in the general population.
What is rs1064794461?
The identifier rs1064794461 refers to a specific single nucleotide polymorphism (SNP) located on chromosome 2. In the context of human genomics, a SNP represents a variation at a single position in the DNA sequence. This particular variant is situated within the NEB gene, a large and complex gene that spans a significant portion of the chromosome. Because the NEB gene is involved in critical structural functions within muscle cells, researchers track variants like rs1064794461 to understand how they might influence biological processes. This variant is cataloged in major public databases, including dbSNP and ClinVar, which serve as central repositories for genetic information. By mapping these variants, scientists can better understand the landscape of human genetic diversity and identify which changes are common versus those that are rare or potentially linked to specific health conditions.
The Role of the NEB Gene
The NEB gene provides the instructions for creating a protein called nebulin. Nebulin is a vital component of the sarcomere, which is the basic functional unit of skeletal muscle. Within these units, nebulin acts like a molecular ruler, helping to regulate the length and assembly of actin filaments, which are essential for muscle contraction. Because of its role in maintaining the structural integrity of muscles, the NEB gene is highly significant in the study of muscle-related disorders. Mutations in this gene have been associated with conditions such as nemaline myopathy, a group of disorders characterized by muscle weakness and reduced muscle tone. Understanding the normal function of the NEB gene is essential for researchers to determine how variations in its sequence might alter protein production or function, potentially impacting muscle health and development.
Research and Evidence
Current research into the NEB gene is extensive, given its role in congenital myopathies. While many variants in NEB are studied for their potential to cause disease, the evidence for any single variant can vary significantly. The rs1064794461 variant is frequently annotated in clinical databases, which indicates that it has been observed in individuals undergoing genetic testing. However, the presence of a variant in a database does not automatically imply that it causes a health condition. Scientific studies often categorize variants based on the strength of evidence linking them to specific phenotypes. For rs1064794461, the evidence is considered moderate, meaning that while it is a known genetic marker, its clinical significance is still being evaluated by the scientific community. Researchers continue to analyze large cohorts to determine if this variant contributes to phenotypic variability or if it is a benign part of human genetic variation.
Understanding Your Results
If you encounter rs1064794461 in a genetic report, it is important to understand that this information is for educational purposes and does not constitute a medical diagnosis. Genetic variants are common, and most do not result in health issues. Because the NEB gene is associated with complex muscle conditions, any findings related to this gene should be interpreted within the context of a person's overall health, family history, and clinical symptoms. You cannot use this information to predict specific health outcomes or to make decisions about medical care. If you have concerns about muscle health or genetic findings, the most appropriate step is to consult with a healthcare professional, such as a genetic counselor or a neurologist. They can provide context, explain the limitations of current genetic testing, and help you understand what these results mean for your specific situation.
How common is this variant?
The rs1064794461 variant is classified as a common variant, meaning it is frequently observed across various human populations in genomic databases.
Frequently asked questions
What is the NEB gene?
The NEB gene provides instructions for making the protein nebulin, which is essential for the structure and function of skeletal muscles. It helps regulate the contraction of muscle fibers.
Is rs1064794461 dangerous?
The presence of a genetic variant does not necessarily mean it is dangerous. Many variants are harmless, and the clinical significance of rs1064794461 is still being studied by researchers.
Where can I find more information on this variant?
You can look up rs1064794461 in public databases like ClinVar or dbSNP. These resources provide the most up-to-date scientific annotations regarding its clinical status.
Should I be worried if I have this variant?
Genetic variants are a normal part of human diversity. If you are concerned about a specific genetic finding, you should discuss it with a qualified healthcare provider or genetic counselor.
Sources & further reading
Educational information only, last refreshed 10/15/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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