DYRK1A rs724159948: what the research says
This pathogenic variant is associated with developmental phenotypes including deeply set eyes and intellectual disability.
What each genotype means
Typical genetic profile
This is the common, non-pathogenic genotype for this location in the DYRK1A gene. It is not associated with the developmental features described in DYRK1A-related intellectual disability syndrome.
This is the most common genotype found in the general population.
Pathogenic variant carrier
This genotype represents a heterozygous state for a pathogenic variant in the DYRK1A gene. Research indicates that pathogenic variants in this gene are typically associated with DYRK1A-related intellectual disability syndrome, which may include features such as microcephaly, speech delays, and distinct facial characteristics. Because this is an autosomal dominant condition, individuals with this variant should consult with a clinical geneticist for personalized evaluation.
This genotype is extremely rare in the general population.
Pathogenic variant homozygous
This genotype indicates the presence of the pathogenic variant on both copies of the DYRK1A gene. Clinical literature identifies this variant as pathogenic and associated with severe neurodevelopmental phenotypes, including intellectual disability and microcephaly. Please discuss these findings with a medical professional or genetic counselor to understand the clinical implications for your specific health context.
This genotype is exceptionally rare and is not typically observed in the general population.
Rare
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