LOVD v.1.0.2 - Leiden Open Variation Database
Online gene-centered collection and display of DNA variations
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 :
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'.
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)
||The combination 'aa' is reserved to indicate the disease-causing state of the homozygous mutation.|
||If the mutation in the second allele has not yet been identified, a '#'-character is added provisionally (e.g. SGCA_00035#).|
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
- 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 14:47:20