Thursday, December 7, 2017
Chromosomes 2 and 3: Nonsense Mutation Found
Browsing through the raw data for Chromosomes 2 and 3, I found an uncommon nonsense mutation in the COL6A5 gene: rs2201717. The minor allele frequency is 0.0164. According to GeneCards, polymorphisms in the gene may be "linked to dermal phenotypes, such as eczema". Perhaps this is one reason for the cystic acne that plagued me during my teenage and young adult years!
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