NPC1 rs80358258: what the research says
This variant in the NPC1 gene is involved in lipid trafficking, which is critical for maintaining the skin barrier and preventing premature photo-aging.
What each genotype means
Typical NPC1 variant profile
This genotype represents the most common form of the NPC1 gene at this specific location. Because this variant is rare, carrying the common version is the expected state for the vast majority of the population and is not associated with known clinical concerns regarding lipid trafficking or skin barrier function.
This is the most common genotype observed across all global populations.
Rare variant carrier
You carry one copy of the rare G allele at this position in the NPC1 gene. Current scientific literature provides limited data on the specific functional impact of this heterozygous state, and it is currently classified as a variant of uncertain significance; therefore, it is not possible to draw definitive conclusions about its effect on your skin health or lipid metabolism.
This genotype is rare and is found in a very small fraction of the global population.
Rare variant homozygous
You carry two copies of the rare G allele at this position. While the NPC1 gene is critical for lipid trafficking, the specific clinical implications of this homozygous genotype remain under investigation, and there is insufficient evidence to link this specific configuration to premature photo-aging or skin barrier dysfunction in the general population.
This genotype is extremely rare and is observed in a negligible percentage of the population.
Rare
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