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). The HGVS recommendations are designed to be stable, meaningful, memorable, and unequivocal.
Human Genetics & Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands; Department of Genetics, University of Leicester, Leicester, UK; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA; Invitae, Inc., San Francisco, CA, USA; University of Vermont College of Medicine, Burlington, VT, USA; Children’s Hospital of Eastern Ontario and University of Ottawa, Ottawa, ON, Canada; Laboratoire de Génétique Moléculaire, CHRU Montpellier, Montpellier, France; Human Variome Project International Coordinating Office, Melbourne, Australia; Department of Genetic Medicine, University of Geneva Medical School, Geneva, Switzerland; Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, Netherlands