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Human Gene Mutation Database HGMD

Online

Represents an attempt to collate known (published) gene lesions responsible for human inherited disease. HGMD® has been an essential tool in analyzing the genomes of thousands of individuals and is widely used in genetics and genomics research today. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. The easy to use online interface enables quick look up of individual mutations and well as advanced search applications for identifying all published mutations known to be associated with a particular gene or disease, that disrupt a splice donor or acceptor site, result in a specific amino acid change and much more.

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HGMD classification

  • Animals
    • Homo sapiens

HGMD specifications

Restrictions to use:
Academic or non-commercial use
Maintained:
Yes

HGMD support

Maintainer

  • Peter D. Stenson <>

Credits

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Publications

Institution(s)

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK

Link to literature

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