Nomenclature for the description of human sequence variations

摘要: A nomenclature system has recently been suggested for the description of changes (mutations and polymorphisms) in DNA protein sequences. These recommendations have now largely accepted. However, current rules do not yet cover all types mutations, nor they more complex mutations. This document lists existing summarizes suggestions additional, changes. Another version this paper published Hum Mut 15:7–12, 2000.