Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

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. While a codified mutation nomenclature system for simple DNA lesions has now been a...

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Bibliographic Details
Published in:Human mutation 2000-01, Vol.15 (1), p.7-12
Main Authors: Dunnen, Johan T. den, Antonarakis, Stylianos E.
Format: Article
Language:English
Subjects:
Base Sequence
Codon
complex mutation
DNA
Exons
Genome, Human
Humans
MDI
Mutation
mutation database
mutation detection
nomenclature
Polymorphism, Genetic
Proteins - genetics
RNA - genetics
Terminology as Topic
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Summary: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. While a codified mutation nomenclature system for simple DNA lesions has now been adopted broadly by the medical genetics community, it is inherently difficult to represent complex mutations in a unified manner. In this article, suggestions are presented for reporting just such complex mutations. Hum Mutat 15:7–12, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N