Human Genetics

, Volume 109, Issue 1, pp 121–124 | Cite as

Nomenclature for the description of human sequence variations

  • J. den Dunnen
  • S. Antonarakis
Nomenclature Recommendations


A nomenclature system has recently been suggested for the description of changes (mutations and polymorphisms) in DNA and protein sequences. These nomenclature recommendations have now been largely accepted. However, current rules do not yet cover all types of mutations, nor do they cover more complex mutations. This document lists the existing recommendations and summarizes suggestions for the description of additional, more complex changes. Another version of this paper has been published in Hum Mut 15:7–12, 2000.


Nucleotide Codon Thionine Nomenclature System Complex Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • J. den Dunnen
    • 1
  • S. Antonarakis
    • 2
  1. 1.MGC Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsThe Netherlands
  2. 2.Division de Génétique Médicale, Centre Médical Universitaire, Rue Michel-Servet 1, 1211 Genève, SwitzerlandSwitzerland

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