HGMD

The gold standard resource for comprehensive data on published human inherited disease mutations.

Features

  • 220,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM
  • 8,000+ 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

 

Useful Resources

Products

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HGMD Online, Clinical Use, 1 User

Cat. No. / ID: 834056

HGMD Online, Clinical Use, 1 User
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HGMD Online, Named User License

Cat. No. / ID: 834050

Annual subscription to HGMD, a comprehensive database of published inherited disease mutations. Allows access for 1 named user.
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HGMD Online, Research Use, 5 Users

Cat. No. / ID: 834052

HGMD Online, Research Use, 5 Users
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HGMD Online, Clinical Use, 5 Users

Cat. No. / ID: 834057

HGMD Online, Clinical Use, 5 Users
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HGMD Online, Clinical Use, 10 Users

Cat. No. / ID: 834058

HGMD Online, Clinical Use, 10 Users
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HGMD Online, Clinical Use, Site License

Cat. No. / ID: 834059

HGMD Online, Clinical Use, Site License
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HGMD Download, Research Use, Lab

Cat. No. / ID: 834061

HGMD Download, Research Use, Lab
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HGMD Download, Research Use, Department

Cat. No. / ID: 834062

HGMD Download, Research Use, Department
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HGMD Download, Research Use, Institute

Cat. No. / ID: 834064

HGMD Download, Research Use, Institute
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HGMD Download , Clinical Use

Cat. No. / ID: 834063

HGMD Download , Clinical Use

Product Details

  • 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

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. Learn more about HGMD.

Performance

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.

Principle

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.

Resources

MSDS (1)
Download Safety Data Sheets for QIAGEN product components.
ダウンロードファイル (1)