Consistent gene mutation nomenclature is essential for efficient and accurate reporting, testing, and curation of the growing number of disease mutations and useful polymorphisms being discovered in the human genome. We strongly encourage the use of standard nomenclature that allows the easy identification of the correct mutation. These nomenclature recommendations have now been largely accepted and stimulated the uniform and unequivocal description of sequence changes.
HUGO Mutation Database Initiative
Standard mutation nomenclature in molecular diagnostics - Practical and educational challenges
Ogino S, Gulley M, den Dunnen JT, Wilson RB and the Association for molecular pathology training and education committee , Journal of Molecular Diagnostics, 2007, 9:1-6
Standardizing mutation nomenclature: why bother?
den Dunnen JT, Paalman MH , Human Mutation, 2003, 22:181-182
Mutation nomenclature extensions and suggestions to describe complex mutations
den Dunnen JT, Antonarakis SE , Human Mutation, 2000, 15:7-12
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