Educational Material

A detailed explanation of HGVS nomenclature can be found on this website. Summaries, using different formats, have been published in journals and several book chapters (see History).

The basics of the current recommendations are explained in a slide presentation from Johan den Dunnen (last updated Apr.2017).

Topics of interest are regularly discussed on the HGVS nomenclature facebook page. The HGVS nomenclature facebook agenda can be used to see where the recommendations are presented/discussed.

Testing your knowledge of the current recommendations can be done using a Question & Answer test that we have generated using the Socrative platform. To join, either download the Socrative Student App or use the Socrative web site and Login as a Student. When asked, go to the class room HGVSmutnomen and give it a try.

When you have made educational or training material or know of others who did so, please let us know!!