CFTR rs113488023: Understanding This Genetic Variant
The rs113488023 variant is a specific change located within the CFTR gene, which is responsible for producing a protein that regulates chloride transport in the body. This variant is categorized as a missense mutation and is evaluated in reproductive carrier screening panels due to its potential association with cystic fibrosis.
What each genotype means
Typical CFTR function
This genotype represents the common, non-variant sequence at this position in the CFTR gene. It is considered the reference state and is not associated with the specific dysfunction described for this variant.
This is the most common genotype, found in the vast majority of the global population.
Carrier status
Individuals with this genotype carry one copy of the variant, which is associated with severe CFTR dysfunction. As a carrier, you typically do not exhibit symptoms of cystic fibrosis, but you may pass this variant to your biological children; consult a genetic counselor to discuss reproductive implications.
This genotype is rare, occurring at a frequency consistent with the global population prevalence of approximately 0.0001.
Potential CFTR dysfunction
This genotype indicates the presence of two copies of the variant. Research suggests this variant is linked to severe CFTR dysfunction, and individuals with this genotype should consult with a medical geneticist or specialist to understand their specific clinical risk profile.
This genotype is extremely rare in the general population.
What is rs113488023 and Where is it Located?
The rs113488023 variant is a single nucleotide polymorphism (SNP) found within the CFTR gene, which is located on chromosome 7. In genetics, a SNP represents a variation at a single position in the DNA sequence. This specific variant is classified as a missense mutation, meaning the change in the DNA sequence results in a different amino acid being incorporated into the CFTR protein. Because the CFTR gene is large and complex, the exact location of a variant can significantly influence how the resulting protein functions. Researchers track these specific coordinates to understand how they might disrupt the normal biological processes of the cell. This variant is routinely included in expanded reproductive carrier screening panels, which are designed to help prospective parents understand their risk of passing on genetic conditions to their children.
The Role of the CFTR Gene
The CFTR gene provides instructions for making the cystic fibrosis transmembrane conductance regulator protein. This protein functions as a channel across the membranes of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. By transporting negatively charged particles called chloride ions into and out of cells, the CFTR protein helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. When the CFTR gene contains pathogenic variants, the protein may be missing, non-functional, or produced in insufficient quantities. This leads to the production of thick, sticky mucus that can clog airways and ducts in the lungs, pancreas, and other organs. Understanding the function of this gene is essential for interpreting how variants like rs113488023 may impact human health.
Research and Clinical Significance
The evidence regarding rs113488023 is currently considered limited. While it is identified in clinical databases as a variant that may cause dysfunction in the CFTR protein, the clinical impact of such variants can vary widely. Cystic fibrosis is an autosomal recessive condition, meaning an individual typically needs to inherit two copies of a pathogenic variant—one from each parent—to manifest the classic symptoms of the disease. Carriers, who have only one copy, generally do not show symptoms but are at risk of passing the variant to their offspring. Because many CFTR variants exist, researchers use large-scale registries and clinical studies to determine which variants are truly disease-causing. It is important to note that the presence of a variant does not automatically equate to a diagnosis of cystic fibrosis, and clinical interpretation often requires professional genetic counseling.
What You Can and Cannot Do With This Information
If you have received information about your status regarding rs113488023, it is important to use this data as a starting point for a conversation with a healthcare professional. You cannot use this information to self-diagnose or predict specific health outcomes, as genetic expression is influenced by many factors, including other variants in the CFTR gene and environmental influences. A genetic counselor or physician can help you interpret what this result means in the context of your personal and family medical history. They can also explain the implications for reproductive planning if you are considering starting a family. Always consult with a qualified medical provider before making any health-related decisions based on genetic testing results, as they can provide the necessary context and guidance tailored to your specific situation.
How common is this variant?
The global population frequency for this variant is approximately 0.0001, according to data from gnomAD. It is considered a rare variant in the general population.
Frequently asked questions
What does it mean to be a carrier of a CFTR variant?
Being a carrier means you have one copy of a variant in the CFTR gene but do not have cystic fibrosis yourself. Carriers are typically healthy but can pass the variant to their children.
Is rs113488023 the same as having cystic fibrosis?
No, identifying a single variant does not mean you have cystic fibrosis. Cystic fibrosis is a complex condition that usually requires inheriting two pathogenic variants, and clinical diagnosis is based on symptoms and specialized testing.
Should I be worried if I have this variant?
Genetic variants are common, and many people carry variants without experiencing health issues. You should discuss your specific results with a genetic counselor to understand the context and any potential implications for your health or family planning.
Where can I find more information about CFTR variants?
You can consult resources like the CFTR2 database, which provides information on the clinical consequences of various CFTR variants. Additionally, your doctor or a genetic counselor can provide personalized information.
Sources & further reading
Educational information only, last refreshed 10/15/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs113488023?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in CFTR
Severe pathogenic mutation (p.Gly542Ter) associated with cystic fibrosis.
Classic cystic fibrosis in-frame 3-bp deletion variant (p.Phe508del / deltaF508) causing misfolding and impaired chloride channel trafficking.
Pathogenic frameshift mutation (c.3659delC) in CFTR linked to cystic fibrosis.
Pathogenic nonsense variant (p.Gly542Ter / G542X) causing autosomal recessive cystic fibrosis when inherited in trans with another CFTR pathogenic allele.
Also known as p.Arg117His (R117H), this CFTR variant is associated with mild or atypical cystic fibrosis and congenital bilateral absence of the vas deferens, with clinical severity influenced by the poly-T tract background.
A CFTR mutation associated with cystic fibrosis and CFTR-related disorders.