title: Nomenclature for the description of human sequence variations.
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.
authors.affiliation: MGC Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. ddunnen@lumc.nl
authors.forename: J T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: D019943:Amino Acid Substitution; D004247:DNA / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics; D012313:RNA / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion; D009626:Terminology as Topic
chemical_list: D011506:Proteins; D012313:RNA; D004247:DNA