Mutation Nomenclature and Mutation Databases

• Human Mutation Instructions to Authors
• EBI's Sequence Variation Database project (Heikki Lehvaslaiho)
• Heikki Lehvaslaiho's lecture on human mutation nomenclature and recommendations for database structure and nomenclature.
• Nomenclature for the description of sequence variations, J.T. den Dunnen, S.E. Antonarakis: Hum Genet 109(1):121-124, 2001
• The Human Genome Variation Society, formerly the HUGO Mutation Database Initiative (MDI).
• HGVS's recommendations for mutation nomenclature, database content, and submission forms (also here)
• HGVS's list of locus-specific mutation databases
• HGVS's list of all human mutation databases
• Human Mutation Special Issue: The HUGO Mutation Database Initiative: Issues, Databases, and Perspectives for the New Millennium. (Jan 2000)
• Human Gene Mutation Database, Cardiff
• Lots of links from Cardiff
• List of mutation nomenclature articles from Cardiff
• Summary of mutation nomenclature from Cornell Cell Repositories
• Summary from Retina International (1999)
• Nomenclature for the description of sequence variations, from Leiden.
• HUGO MDI FAQ