Scientific article
English

Nomenclature for the description of human sequence variations

Published inHuman genetics, vol. 109, no. 1, p. 121-124
Publication date2001
Abstract

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.

Keywords
  • Amino Acid Substitution
  • DNA/genetics
  • Genetic Variation
  • Humans
  • Mutation
  • Polymorphism, Genetic
  • Proteins/genetics
  • RNA/genetics
  • Repetitive Sequences, Nucleic Acid
  • Sequence Deletion
  • Terminology as Topic
Citation (ISO format)
DEN DUNNEN, J. T., ANTONARAKIS, Stylianos. Nomenclature for the description of human sequence variations. In: Human genetics, 2001, vol. 109, n° 1, p. 121–124.
Main files (1)
Article
accessLevelRestricted
Identifiers
Journal ISSN0340-6717
970views
0downloads

Technical informations

Creation12/07/2010 11:57:38
First validation12/07/2010 11:57:38
Update time14/03/2023 15:50:43
Status update14/03/2023 15:50:43
Last indexation29/10/2024 15:49:10
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack