Unit

UNIT 7.13 Mutation Nomenclature

  1. Johan T. den Dunnen1,
  2. Stylianos E. Antonarakis2

Published Online: 1 AUG 2003

DOI: 10.1002/0471142905.hg0713s37

Current Protocols in Human Genetics

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.

Author Information

  1. 1

    Leiden University Medical Center, Leiden, The Netherlands

  2. 2

    University of Geneva Medical School and University Hospitals, Geneva, Switzerland

Publication History

  1. Published Online: 1 AUG 2003
  2. Published Print: APR 2003

Abstract

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.