C1QTNF5 and MFRP rs606231145: Understanding the Variant
The rs606231145 variant is a rare genetic alteration located in a region of chromosome 11 that encompasses both the C1QTNF5 and MFRP genes. It has been documented in clinical databases in association with isolated microphthalmia, a condition characterized by abnormally small eyes.
What each genotype means
Rare variant carrier
You carry one copy of this rare variant. This variant is documented in clinical databases in association with findings related to the C1QTNF5 and MFRP genes, but its specific clinical significance remains subject to ongoing research.
This genotype is rare and found at a very low frequency in the general population.
Rare homozygous variant
You carry two copies of this rare variant. Because this variant is rare, clinical data regarding the homozygous state is extremely limited, and its impact on health is not well-established in current scientific literature.
This genotype is extremely rare and is observed in a very small fraction of the population.
What is rs606231145?
The rs606231145 variant is a specific genetic change identified in the human genome. In technical terms, it is often described as a duplication event (specifically a G duplication) located on chromosome 11. Because it is a rare variant, it does not appear in the common genetic profiles of the general population. It is situated in a complex genomic region where the C1QTNF5 and MFRP genes are located. These two genes are part of a bicistronic transcript, meaning they are physically linked and often transcribed together. Because of this close proximity, variations in this area can potentially impact the function or regulation of either gene. Researchers track such variants to understand how specific changes in DNA sequence might contribute to rare developmental conditions.
The Role of C1QTNF5 and MFRP
The C1QTNF5 gene encodes a protein that is part of the C1q/tumor necrosis factor-related protein family. This protein is secreted and plays a critical role in maintaining ocular homeostasis, particularly within the retinal pigment epithelium and the ciliary body of the eye. Similarly, the MFRP gene, which stands for Membrane Frizzled-Related Protein, is also essential for eye development and function. Because these genes are involved in the structural and functional integrity of the eye, disruptions in their sequences can lead to significant clinical findings. Research into these genes often focuses on how they support the health of ocular tissues and how mutations might lead to conditions like late-onset retinal degeneration or developmental eye disorders.
Clinical Associations and Evidence
The rs606231145 variant is listed in clinical databases, such as ClinVar, with an association to microphthalmia, specifically isolated microphthalmia type 5. Microphthalmia is a developmental disorder where one or both eyeballs are abnormally small. The evidence for this association is derived from clinical reports and studies of rare genetic conditions. It is important to note that while this variant is categorized as pathogenic in some clinical contexts, the presence of a variant does not guarantee a specific clinical outcome. Genetic associations are complex, and the impact of a variant can be influenced by other genetic factors and environmental interactions. Clinical interpretation of such variants is typically performed by medical geneticists who consider the full clinical picture of an individual.
Population Frequency
The rs606231145 variant is classified as rare. In the context of human genetics, rare variants are those that appear at a very low frequency in the general population. Because it is not a common polymorphism, it is not typically found in large-scale population screening studies or standard ancestry-based genetic reports. Its rarity means that there is limited data regarding its distribution across different global populations. Most information regarding this variant comes from clinical case studies rather than population-wide surveys.
Interpreting Genetic Information
Information about rare variants like rs606231145 is intended for educational purposes and to assist in clinical research. If you have received a report mentioning this variant, it is essential to understand that this information is not a medical diagnosis. Genetic variants are only one piece of a much larger puzzle that includes family history, physical examinations, and other diagnostic tests. You cannot use this information to self-diagnose or make medical decisions. If you are concerned about a genetic finding, the most appropriate step is to consult with a qualified healthcare provider, such as a genetic counselor or a medical geneticist. They can provide context, explain the significance of the finding in relation to your health, and guide you through any necessary clinical follow-up.
How common is this variant?
The rs606231145 variant is considered rare, with no significant frequency observed in large-scale population databases.
Frequently asked questions
What is microphthalmia?
Microphthalmia is a developmental condition where one or both eyes are abnormally small. It can be caused by a variety of genetic and environmental factors.
Is rs606231145 common?
No, rs606231145 is a rare variant. It is not found in the majority of the population.
What should I do if I have this variant?
If you have concerns about a genetic variant, you should discuss the results with a medical professional or a genetic counselor. They can help interpret the findings in the context of your personal and family health history.
Are C1QTNF5 and MFRP the same gene?
No, they are two distinct genes that are located very close to each other on chromosome 11. They are often studied together because they are part of the same bicistronic transcript.
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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