Mutation Nomenclature


A codified nomenclature system is required by medical geneticists to describe changes (mutations) in the sequence of deoxyribonucleic acid, ribonucleic acid and protein.

Keywords: gene; mutation; polymorphism; sequence change; genetic disease


Antonarakis SE and the Nomenclature Working Group (1998) Recommendations for a nomenclature system for human gene mutations. Human Mutation 11: 1–3.

Beaudet AL and the Ad Hoc Committee on Mutation Nomenclature (1996) Update on nomenclature for human gene mutations. Human Mutation 8: 197–202.

Beutler E, McKusick VA, Motulsky A, Scriver CR and Hutchinson F (1996) Mutation nomenclature: nicknames, systematic names and unique identifiers. Human Mutation 8: 203–206.

den Dunnen JT and Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human Mutation 15: 7–12.

Further Reading

The HUGO Mutation Database Initiative (2000) The HUGO mutation database initiative: issues, databases, and perspectives for the new millennium. Human Mutation 15(1) [].

Web Links

Human Genome Variation Society (HGVS): homepage of the Human Genome Variation Society

Human Genome Variation Society (HGVS): nomenclature for the description of sequence variations with recent modifications, discussions and examples

Leiden Muscular Dystrophy pages: example of assigning database IDentifiers by a locus specific database (LSDB)

Leiden Muscular Dystrophy pages: nomenclature for the description of sequence variations with recent modifications, discussions and examples.

NCBI RefSeq: the Reference Sequence project (RefSeq) provides reference sequence standards for the naturally occurring molecules of the central dogma, from chromosomes to mRNAs to proteins

Online Mendelian Inheritance in Man (OMIM): database of all hereditary diseases in human with descriptions of some allelic variants

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How to Cite close
den Dunnen, Johan T(Jan 2006) Mutation Nomenclature. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005472]