NDRG1 rs119483085: What Your Genotype Means
The rs119483085 variant is a rare genetic change located in the NDRG1 gene. It is primarily studied for its association with the development of Charcot-Marie-Tooth disease type 4D, an inherited condition affecting the peripheral nervous system.
What each genotype means
Typical genetic profile
This genotype represents the common, non-variant form of the NDRG1 gene at this position. Individuals with this profile do not carry the specific mutation associated with Charcot-Marie-Tooth disease type 4D.
This is the most common genotype found in the general population.
Carrier of disease-associated allele
This genotype indicates you carry one copy of the T allele, also known as p.Arg148Ter or R148X. Because Charcot-Marie-Tooth disease type 4D is an autosomal recessive condition, carriers typically do not exhibit symptoms of the disease.
This genotype is rare in the general population.
Associated with CMT4D risk
This genotype involves two copies of the T allele, which is a known pathogenic mutation in the NDRG1 gene. This specific genetic change is associated with the development of autosomal recessive Charcot-Marie-Tooth disease type 4D, a disorder of the peripheral nervous system. Please consult with a medical geneticist or healthcare provider to discuss these findings and their clinical implications.
This genotype is extremely rare in the general population.
Understanding the Variant
The variant rs119483085 is a specific change in the DNA sequence of the NDRG1 gene, which is located on chromosome 8. In scientific literature, this variant is often referred to as p.Arg148Ter or R148X, indicating that it introduces a premature stop codon in the protein-coding sequence. This type of mutation typically results in the production of a truncated, non-functional protein. Because this variant is located within a gene essential for normal cellular function, it has been the subject of significant clinical interest. It is classified as a pathogenic variant in the context of specific hereditary neuropathies. Understanding where this SNP sits on the genome helps researchers track how it is inherited within families and how it contributes to the disruption of normal biological pathways in the peripheral nervous system.
The Role of the NDRG1 Gene
The NDRG1 gene, or N-myc downstream-regulated gene 1, provides instructions for making a protein that is found in many tissues throughout the body, with particularly high levels in the peripheral nerves. This protein is involved in several critical cellular processes, including stress responses, cell growth, and differentiation. Within the nervous system, the NDRG1 protein is thought to be essential for the health of Schwann cells, which are the cells that insulate nerve fibers. By supporting the interaction between these cells and the axons they protect, the NDRG1 protein helps ensure the survival and proper function of peripheral nerves. When the gene is mutated, the resulting protein deficiency can lead to the breakdown of these protective structures, which is a hallmark of the neuropathies associated with this gene.
Research and Clinical Associations
Research has established a strong link between biallelic mutations in the NDRG1 gene—meaning a person inherits two copies of the variant—and Charcot-Marie-Tooth disease type 4D (CMT4D). Also historically known as hereditary motor and sensory neuropathy-Lom (HMSNL), this condition is characterized by progressive muscle weakness, sensory loss, and often hearing impairment. The evidence for this association is considered robust in clinical genetics, as the mutation directly impacts the production of a functional protein necessary for nerve health. While the association with CMT4D is well-documented, it is important to note that this is a rare condition. Most research into this variant has focused on specific populations where founder mutations have been identified, highlighting that the clinical impact is highly dependent on the inheritance of two copies of the variant.
Population Frequency and Inheritance
The rs119483085 variant is considered rare in the general global population. Because CMT4D is an autosomal recessive disorder, an individual must inherit two copies of the pathogenic variant—one from each parent—to be at risk for the condition. Individuals who carry only one copy of the variant are typically referred to as carriers and generally do not exhibit the symptoms of the disease. The prevalence of this variant is not uniform; it has been identified as a founder mutation in specific ethnic groups, such as certain populations in Bulgaria. Because of its rarity, it is not a common variant found in standard population screening panels. Genetic testing for this variant is usually reserved for individuals with a family history of neuropathy or those presenting with clinical symptoms consistent with CMT4D.
Interpreting Your Genetic Information
If you have received information about your status for rs119483085, it is important to understand that this is a clinical finding that requires professional interpretation. A carrier status (having one copy) does not mean you have the disease, but it may be relevant for family planning if your partner also carries a mutation in the same gene. If you are concerned about your results or have a family history of neurological conditions, you should consult with a certified genetic counselor or a neurologist. They can provide context based on your specific medical history and help you understand the implications of your genetic data. You cannot use this information to diagnose yourself or others, and any medical decisions regarding your health should be made in consultation with a qualified healthcare provider who can interpret these results within the context of your overall health.
How common is this variant?
The rs119483085 variant is rare in the general population, with its frequency being significantly higher only in specific founder populations where the mutation has been historically concentrated.
Frequently asked questions
What is Charcot-Marie-Tooth disease type 4D?
CMT4D is a rare, inherited disorder that causes damage to the peripheral nerves. It typically leads to muscle weakness, sensory loss, and sometimes hearing loss.
Does having one copy of the variant mean I will get sick?
No, CMT4D is an autosomal recessive condition. This means that typically, you must inherit two copies of the variant to be at risk for developing the disease.
Should I be worried if I am a carrier?
Being a carrier generally does not cause health problems. However, if you are planning a family, you may want to speak with a genetic counselor to understand the inheritance risks for your children.
How is this variant tested?
This variant is usually identified through targeted genetic testing or comprehensive sequencing panels for hereditary neuropathies. It is not typically included in standard wellness-focused genetic tests.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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