LAMB3 rs786201004: what the research says
This pathogenic variant is linked to Amelogenesis imperfecta, a condition affecting tooth enamel development.
What each genotype means
Increased risk of enamel defects
This genotype indicates the presence of a heterozygous pathogenic variant in the LAMB3 gene, which is linked to autosomal dominant Amelogenesis imperfecta, type IA. This condition is characterized by abnormal formation of dental enamel, and you should discuss these findings with a dental professional or genetic counselor to understand potential clinical implications for your oral health.
This specific genotype is considered rare in the general population.
High risk of enamel defects
This genotype indicates the presence of a homozygous pathogenic variant in the LAMB3 gene, which is associated with Amelogenesis imperfecta, type IA. Because this variant affects the structure of dental enamel, individuals with this genotype are at a high risk for developing enamel hypoplasia and should consult with a dental specialist for appropriate management and monitoring.
This genotype is extremely rare in the general population.
Rare
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