Description

NOTE:
HGMD public is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the HGMD public database is open to all academic users, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.

DOWNLOADS:
As requested by Biobase, this track is not available for download or mirroring.

This track shows the genomic positions of variants in the public version of the Human Gene Mutation Database (HGMD). UCSC does not host any further information and provides only the coordinates of mutations.

To get details on a mutation (bibliographic reference, phenotype, disease, nucleotide change, etc.), follow the "Link to HGMD" at the top of the details page. Mouse over to show the type of variant (substitution, insertion, deletion, regulatory or splice variant). For deletions, only start coordinates are shown as the end coordinates have not been provided by HGMD (but are available by following the link on the details page). Insertions are located between the two highlighted nucleic acids.

The HGMD public database is produced at Cardiff University, but is free only for academic use. Academic users can register for a free account at the HGMD User Registration page. Download and commercial use requires a license for the HGMD Professional database which contains around 30,000 mutations excluded from HGMD public.

Display Conventions and Configuration

Genomic locations of HGMD variants are labeled with the gene symbol and the accession of the mutation, separated by a colon. All other information is shown on the respective HGMD variation page, accessible via the "Link to HGMD" at the top of the details page.

Methods

The mappings displayed on this track were obtained from Biobase and reformatted at UCSC as a bigBed file.

Credits

Thanks to HGMD and Biobase for making these data available.

References

Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. The Human Gene Mutation Database: 2008 update. Genome Med. 2009 Jan 22;1(1):13. PMID: 19348700; PMC: PMC2651586