Pathogenic: light or dark skin?

Hum Mutat. 2014 May;35(5):520. doi: 10.1002/humu.22543. Epub 2014 Apr 7.

Abstract

Currently, we use the term "pathogenicity" to indicate whether a variant in a gene has an influence on the phenotype or not. As this term is confusing, not neutral, and incorrectly refers to a disease state, it seems better to use a more neutral term. The suggestion is to use "affects function."

Keywords: classification; database; genetics; mutation; pathogenicity; variant.

MeSH terms

  • Humans
  • Mutation / genetics*
  • Phenotype
  • Pigments, Biological / genetics*
  • Polymorphism, Single Nucleotide
  • Skin*

Substances

  • Pigments, Biological