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.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Electronic Publication
Rights and permissions
About this article
Cite this article
den Dunnen, J., Antonarakis, S. Nomenclature for the description of human sequence variations. Hum Genet 109, 121–124 (2001). https://doi.org/10.1007/s004390100505
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s004390100505