The gold standard resource for comprehensive data on published human inherited disease mutations.
QIAGEN database offerings: QIAGEN offers databases containing manually curated findings from the scientific literature organized in computationally accessible formats. The databases span a diverse array of topics including inherited disease mutations, images of syndromes and undiagnosed malformations, and experimentally described transcription factor binding sites and compiled positional weight matrices.
170,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM.
6,800+ summary reports listing all known inherited disease mutations for a given gene characterized by six different pathogenic variant classes.
Advanced search functionality, including the ability to find mutations based on the type of nucleotide or amino acid change, or their location in a specific motif, splice site, or regulatory region.
A mutation visualization tool which provides a graphical representation of the aligned DNA and protein sequences with color-coded mutated nucleotides for a selected gene.
Ability to export customized mutation tracks for use in 3rd party genome browsers and analysis tools.
HGMD On-line: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, and much more.