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LOVD v.1.1.0 - Leiden Open Variation Database

Online gene-centered collection and display of DNA variants

Information LOVD v.2.0 is the successor of the current 1.1.0 version. We recommend that you try the 2.0 release as it is more user friendly and has more possibilities.

Quick Reference Guide - Db-IDs

The database ID's have the format 'GeneSymbol_Code', e.g. SGCD_00005(bm). The GeneSymbol is the official abbreviation for the gene containing the sequence variation, as approved by the Human Gene Nomenclature Committee (HUGO).

In most cases the code has the format NumberLetter :
  • Number
    A unique 5 digit number discriminating all sequence variations in one specific database (assigned by the database curator)

  • Letter (for mutations in recessive autosomal diseases only)
    A unique two-letter combination discriminating all disease causing combinations of sequence variations in a specific database (assigned by the database curator)

    Information The combination 'aa' is reserved to indicate the disease-causing state of the homozygous mutation.

    Information If the mutation in the second allele has not yet been identified, a '#'-character is added provisionally (e.g. SGCA_00035#).

The Letter indication has been added to enable the identification of disease-causing heterozygous mutations in recessive autosomal diseases. The short notation (like SGCD_00005) will uniquely identify each sequence variant, while the long notation (like SGCA_00005aa, SGCA_00005bi, SGCA_00005bm) indicates that the sequence variant has been found in combination with three different sequence variants, namely itself ('aa'), 'bi' and 'bm'.
Identification of the second mutation is facilitated by the unique two-letter combination, in this case bi pointing to SGCA_00017bi and bm to SGCA_00003bm).

In case the change at the DNA level has not been fully characterised, the format will be like DMD_e5e9b. This ID is used for e.g. deletions / duplications identified by Southern blotting or on RNA level only. In these cases the code assigned has the format:
  • First exon affected
    Like "e5"

  • Last exon affected
    Like "e9" (added only when different from the first exon affected)

  • For duplications
    A "b" is added to the code (to discriminate duplications from deletions)
Last modified 2014/08/25 14:48:46

When using or discussing LOVD please refer to:
Fokkema IFAC, Den Dunnen JT and Taschner PEM (2005). LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach.
Hum Mutat. 2005 Aug;26(2):63-8.

Leiden University Medical Center, Netherlands
Ing. Ivo F.A.C. Fokkema, Dr. Johan T. den Dunnen