Structural Impact of Single Nucleotide Variations (SNVs)
The simplest form of mutation is a single DNA base change, frequently, though somewhat inaccurately, referred to as a “single-nucleotide polymorphism” (SNP). Strictly, this term should only be applied to single base changes that are observed in at least 1% of a “normal” population, and the term “single-nucleotide variation” (SNV) should be used for the more general case. Thus SNVs may, or may not, have an impact on phenotype, and this impact may be inherited in a Mendelian fashion. “Penetrance” is defined as the percentage of individuals having a particular SNV who show the associated phenotype. Mutations inherited in a Mendelian fashion, whether dominant or recessive, have 100% penetrance, but SNVs may also exhibit “partial penetrance”...
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