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 but only for limited API queries, see below.
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.
Batch queries
Due to license restrictions, the HGMD data is not available for download or for batch queries in the Table Browser.
However, it is available for programmatic access via the Global
Alliance Beacon API, a web service that accepts queries in the form
(genome, chromosome, position, allele) and returns "true" or "false" depending on whether there
is information about this allele in the database. For more details see our
Beacon Server.
Subscribers of the HGMD database can also use the HGMD API directly to retrieve full details, please contact HGMD support for further information.
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
| 
US Server