Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Hum Mutat. 2000;15(1):7-12. doi: 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N.


Consistent gene mutation nomenclature is essential for efficient and accurate reporting, testing, and curation of the growing number of disease mutations and useful polymorphisms being discovered in the human genome. While a codified mutation nomenclature system for simple DNA lesions has now been adopted broadly by the medical genetics community, it is inherently difficult to represent complex mutations in a unified manner. In this article, suggestions are presented for reporting just such complex mutations.

MeSH terms

  • Base Sequence
  • Codon
  • DNA
  • Exons
  • Genome, Human
  • Humans
  • Mutation*
  • Polymorphism, Genetic
  • Proteins / genetics
  • RNA / genetics
  • Terminology as Topic*


  • Codon
  • Proteins
  • RNA
  • DNA