HGMD: The Human Gene Mutation Database

• Institute of Medical Genetics in Cardiff

HGMD is a integrated database of germ-line mutations which are underlying or associated with human inherited disease in nuclear genes. This database contains all germ-line disease-causing mutations and disease-associated/functional polymorphisms reported in the literature. Furthermore, it includes the data about single base-pair substitutions in coding (e.g. missense and nonsense), regulatory and splicing-relevant regions of human nuclear genes, micro-deletions and micro-insertions, indels, repeat expansions, as well as gross gene lesions (deletions, insertions and duplications) and complex gene rearrangements. These data are provided in a readily accessible format to all interested parties, whether they are from an academic, clinical or commercial background.