Mutations: Penetrance


A given genotype does not necessarily lead to the same phenotype. Individuals with a specific genotype will display a range of phenotypes. The relationship between genotype and a specific phenotype is referred to as penetrance.

Keywords: phenotype


Houlston RS and Tomlinson IPM (1998) Modifier genes in humans: strategies for identification. European Journal of Human Genetics 6: 80–88.

Further Reading

Lynch M and Walsh B (1998) Genetics and Analysis of Quantitative Traits, chap. 13. Sunderland, MA: Sinauer Associates.

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Houlston, Richard(Jan 2006) Mutations: Penetrance. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005490]