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Human Gene Mutation Database (HGMD): 2003 update.

The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line mutations in nuclear genes underlying or associated with human inherited disease (www.hgmd.org). Data catalogued includes: single base-pair substitutions in coding, regulatory and splicing-relevant regions; micro-deletions and micro-insertions; indels; triplet repeat expansions as well as gross deletions; insertions; duplications; and complex rearrangements. Each mutation is entered into HGMD only once in order to avoid confusion between recurrent and identical-by-descent lesions. By March 2003, the database contained in excess of 39,415 different lesions detected in 1,516 different nuclear genes, with new entries currently accumulating at a rate exceeding 5,000 per annum. Since its inception, HGMD has been expanded to include cDNA reference sequences for more than 87% of listed genes, splice junction sequences, disease-associated and functional polymorphisms, as well as links to data present in publicly available online locus-specific mutation databases. Although HGMD has recently entered into a licensing agreement with Celera Genomics (Rockville, MD), mutation data will continue to be made freely available via the Internet.

Pubmed ID: 12754702


  • Stenson PD
  • Ball EV
  • Mort M
  • Phillips AD
  • Shiel JA
  • Thomas NS
  • Abeysinghe S
  • Krawczak M
  • Cooper DN


Human mutation

Publication Data

June 19, 2003

Associated Grants


Mesh Terms

  • Databases, Genetic
  • Genes
  • Genome, Human
  • Genomics
  • Humans
  • Internet
  • Mutation
  • Polymorphism, Genetic
  • Time Factors