ASXL1 rs373145711: Understanding This Genetic Variant
The rs373145711 variant is a specific change in the DNA sequence located within the ASXL1 gene. It has been clinically associated with Bohring-Opitz syndrome, a rare genetic condition.
What each genotype means
Typical ASXL1 genotype
This is the common, reference genotype for this position in the ASXL1 gene. It is considered the normal state for this specific genetic location.
This is the most common genotype found in the general population.
Associated with Bohring-Opitz syndrome
This genotype, also known as p.Arg404Ter or R404X, is a pathogenic mutation in the ASXL1 gene associated with Bohring-Opitz syndrome. While this variant is linked to a specific clinical condition, it has occasionally been observed in individuals without reported symptoms in large-scale exome databases. Please discuss these findings with a medical geneticist or clinician to understand their clinical relevance for you.
This genotype is rare in the general population.
Pathogenic ASXL1 variant
This genotype represents a homozygous state for a pathogenic mutation in the ASXL1 gene. This variant is associated with Bohring-Opitz syndrome, a condition characterized by distinct physical features and developmental challenges. Please consult with a healthcare professional or genetic counselor to discuss the implications of this result.
This genotype is extremely rare in the general population.
What is rs373145711?
The identifier rs373145711 refers to a single nucleotide polymorphism (SNP) located on chromosome 20. In the context of human genetics, a SNP represents a variation at a single position in the DNA sequence. This specific variant involves a change from a cytosine (C) to a thymine (T) base. It is situated within the ASXL1 gene, which provides instructions for making a protein that is involved in the regulation of gene expression. Because this variant can alter the function of the ASXL1 protein, it is categorized as a pathogenic variant in clinical databases. Understanding such variants is a core component of modern genomic research, as they help scientists map the relationship between specific DNA sequences and human health outcomes.
The Role of the ASXL1 Gene
The ASXL1 gene, or Additional Sex Combs Like 1, plays a critical role in epigenetic regulation. The protein produced by this gene acts as a scaffold, helping to organize other proteins that modify chromatin—the structure that packages DNA within the cell nucleus. By influencing how DNA is packed, ASXL1 helps determine which genes are turned on or off during development. Because this process is fundamental to cell growth and differentiation, mutations in ASXL1 can have widespread effects on the body. Research has shown that disruptions in this gene are linked to various developmental disorders and, in some contexts, are associated with hematological conditions. The specific variant rs373145711 is recognized for its potential to disrupt these essential regulatory functions.
Clinical Associations and Evidence
The evidence linking rs373145711 to clinical outcomes is primarily centered on its association with Bohring-Opitz syndrome. This is a rare, complex genetic disorder characterized by distinctive facial features, growth delays, and intellectual disability. Clinical databases, such as those curated by the National Center for Biotechnology Information, classify this variant as pathogenic, meaning it is considered a causative factor for the condition. The strength of this evidence is derived from clinical observations and genetic testing of individuals presenting with the syndrome. While the association is well-documented in clinical literature, it is important to note that genetic variants can have variable expressivity, meaning the severity and specific symptoms can differ between individuals even if they carry the same genetic change.
Population Frequency and Interpretation
Information regarding the population frequency of rs373145711 is currently limited. In many large-scale genomic databases, this variant is extremely rare, which is consistent with its classification as a pathogenic variant associated with a rare syndrome. Because it is not a common polymorphism found in the general population, it is not typically included in standard ancestry-informative panels. For individuals who encounter this variant in a personal genetic report, it is essential to understand that such findings require professional interpretation. Genetic data is complex, and the presence of a variant does not automatically equate to a diagnosis. If you have concerns about your genetic results or family history, the most appropriate step is to consult with a board-certified genetic counselor or a medical geneticist who can provide context based on your specific clinical situation.
How common is this variant?
The rs373145711 variant is extremely rare in the general population, and specific frequency data across different ancestral groups remains largely unknown.
Frequently asked questions
What is Bohring-Opitz syndrome?
Bohring-Opitz syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by developmental delays, intellectual disability, and specific physical features.
Should I be worried if I see this variant in my report?
Finding a rare, pathogenic variant in a personal report can be concerning, but it is important to remember that clinical interpretation is complex. You should discuss these results with a healthcare provider or a genetic counselor to understand what they mean for you.
Is this variant related to cancer?
While ASXL1 mutations are sometimes studied in the context of blood cancers, rs373145711 is specifically noted for its association with a developmental syndrome. Always consult a specialist for information regarding specific health risks.
Where can I get more information about ASXL1?
You can find reliable information about genes and their functions through resources like MedlinePlus Genetics or the National Center for Biotechnology Information (NCBI) Gene database.
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs373145711?
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
This variant in the HLA-DQB1 region is associated with peanut allergy susceptibility, reflecting the broader role of HLA class II variation in food allergy risk.
This variant is a robustly replicated genetic marker associated with short sleep duration across diverse ancestral populations.
This variant in the TYK2 gene is identified as a shared causal signal in the genetic architecture of psoriasis and rheumatoid arthritis.
This TYK2 variant shows evidence of antagonistic pleiotropy, with opposite effects on the risk of psoriasis versus rheumatoid arthritis.
This SNP acts as an intermediate allele tag for the C9orf72 repeat expansion, which is linked to both ALS risk and longevity outcomes.
This variant in the CDKN2B-AS1 long noncoding RNA gene is associated with extreme longevity in genome-wide association studies.