These pages summarise HGVS-nomenclature: the recommendations for the description of sequence variants. HGVS-nomenclature is used to report and exchange information regarding variants found in DNA, RNA and protein sequences and serves as an international standard in DNA diagnostics. HGVS-nomenclature is authorised by the Human Genome Variation Society (HGVS), the Human Variome Project (HVP) and the HUman Genome Organization (HUGO).
An overview of recent additions, especially those that led to a change of the HGVS version number, can be found on the Versioning page. The Open Issues page shows whether there are proposals open for Community Consultation and which topics are currently under discussion (pre-proposal...
Discussions regarding HGVS nomenclature are necessary in order to further improve them. What is listed on these pages represents the current consensus of the recommendations. We invite everybody to send us comments or examples of cases that are not yet covered, with a suggestion of how to describe these ( E-mail: VarNomen @ HGVS.org).
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