Leiden Muscular Dystrophy pages

Gene variant database IDentifiers

(last modified October, 2009)


Introduction


Throughout the gene variant databases covered by the "Leiden Muscular Dystrophy pages (LMDp)", we have assigned a unique LMDp IDentifier (ID) to all gene variants listed. This unique ID will be stable and never change.

Authors submitting sequence variations to the LMDp-databases will receive a confirming message (E-mail), listing the new ID's given. In this way, irrespective of publication in a printed scientific journal, authors will have the possibility to refer to the allelic variants submitted as an electronic publication. References to the mutations can be made in a format like "Den Dunnen JT (2002). 12 new mutations in the DMD-gene. DMD_00083-DMD_0094. Leiden Muscular Dystrophy pages at http://www.DMD.nl/".

Linking direclty to these variants can be through a link with the format;
        url/variants.php?select_db=CAPN3&action=search_unique&search_Variant%2FDBID=CAPN3_00332
linking to the variant CAPN3_00332.

Linking directly to all variants submitted by a specific submitter, e.g. the submitter with ID = 00232, can be through a link with the format;;
       url/submitters_variants.php?genes[]=TPM3&submitterid=00232
linking to variants in the TPM3 gene of submitter 00232.


Format ID


The database ID's have the format "GeneSymbol_code", e.g. SGCD_00005 or DMD_e5e9b.

Change at DNA level fully characterised -  format like GeneSymbol_number, e.g. SGCD_00005

Change at DNA level not fully characterised
Special IDs are used for variants which have not been fully characterized at DNA level, e.g. deletions / duplications identified by Southern blotting or varaints studied at RNA level only.

  1. geneID, like "DMD_"
  2. first exon affected, like "e5"
  3. last exon affected, like "e9" (added only when different from the first exon affected)
  4. only for duplications a "b"   (to dicriminate duplications from deletions)


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