Mutation Nomenclature


In the last few years, the number of mutation reports in the literature has been greatly increasing. Along with this comes the need to describe these mutations in a consistent, accurate and uniform way. A number of attempts have been made to standardise nomenclature. Links to literature on the subject can be found below.

Journal links
Taschner PE, den Dunnen JT: Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat 32(5):507-511, 2011. PubMed Human Mutation
Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE: Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29(1)6-13, 2008. PubMed Human Mutation
den Dunnen JT, Antonarakis SE: Nomenclature for the description of human sequence variations. Hum Genet 109(1):121-124, 2001. PubMed Human Genetics
den Dunnen JT, Antonarakis SE.: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15(1):7-12, 2000. PubMed Human Mutation
Antonarakis SE: Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11(1):1-3, 1998. PubMed Human Mutation
Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F: Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum Mutat 8(3):203-206, 1996. PubMed Human Mutation
Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature. Hum Mutat 8(3):197-202, 1996. PubMed  
Antonarakis SE, McKusick VA: Discussion on mutation nomenclature. Hum Mutat 4(2):166, 1994. PubMed  
Beutler E: The designation of mutations. Am J Hum Genet 53(3):783-785, 1993. PubMed  
Beaudet AL, Tsui LC: A suggested nomenclature for designating mutations. Hum Mutat 2(4):245-248, 1993. PubMed  

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