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URL: http://www.hgmd.cf.ac.uk/ac/index.php

Proper Citation: HGMD (RRID:SCR_001888)

Description: It represents an attempt to collate known (published) gene lesions responsible for human inherited disease. More specifically, this database is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated with human inherited disease. This database, whilst originally established for the study of mutational mechanisms in human genes (Cooper and Krawczak 1993), has now acquired a much broader utility in that it embodies an up-to-date and comprehensive reference source to the spectrum of inherited human gene lesions. Thus, HGMD provides information of practical diagnostic importance to (i) researchers and diagnosticians in human molecular genetics, (ii) physicians interested in a particular inherited condition in a given patient or family, and (iii) genetic counselors. The Human Gene Mutation Database comprises various types of mutation within the coding regions, splicing and regulatory regions of human nuclear genes causing inherited disease. Somatic mutations and mutations in the mitochondrial genome are thus not included, although in the latter case, links to Mitomap are now provided. Each mutation is entered only once in order to avoid confusion between recurrent and identical-by-descent lesions. Mutations inferred from amino acid sequencing have been excluded since, in the absence of direct DNA analysis, some ambiguity may exist as to the DNA sequence changes involved. Silent mutations within the coding region which do not alter the encoded amino acid are also not recorded. If such mutations are known to adversely affect mRNA splicing or gene expression, or have been reported in significant association with disease, they may be included. Sponsors: This Database is supported by Celera, Macmillan, The Genome Database, DFG, BIOS Scientific Publishers, Research Genetics, ScotLab bioscience, MB Biochemicals, Phzer, Sun Life, GFH, Springer, SmithKline Beecham, Hybaid.

Abbreviations: HGMD

Synonyms: The Human Gene Mutation Database, The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff

Resource Type: database, data or information resource

Defining Citation: PMID:9399854

Keywords: encode, expression, gene, genetic, amino acid, coding region, disease, dna sequence, human, inherited disease, mitochondrial genome, molecular, mrna, mutation, nuclear gene, regulatory region, splicing