UNIT 7.13 Mutation Nomenclature
Published Online: 1 AUG 2003
Copyright © 2001 John Wiley & Sons, Inc. All rights reserved.
Lab Protocol Title
Current Protocols in Human Genetics
How to Cite
den Dunnen, J. T. and Antonarakis, S. E. 2003. Mutation Nomenclature. Current Protocols in Human Genetics. 37:7.13:7.13.1–7.13.8.
- Published Online: 1 AUG 2003
- Published Print: APR 2003
As part of the Human Genome Variation Society (formerly known as the HUGO Mutation Database Initiative), a committee was formed to suggest standards for the description of sequence variants in DNA, RNA, and protein sequences. The committee proposed that the nomenclature should be unequivocal, precise, and short, and should prevent any possible confusion and follow existing practice as much as possible. To “spread the word,” the nomenclature rules were published at regular intervals. This unit summarizes these nomenclature recommendations, which stimulated a uniform and unequivocal description of sequence variants in literature.