LOVD IDUA homepage

General information
Gene name iduronidase, alpha-L-
Gene symbol IDUA
Chromosome Location 4p16.3
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
Database reference for citations PMID1832239
PubMed references View all (unique) PubMed references in the IDUA database
Date of creation April 29, 2010
Last update January 05, 2013
Version IDUA130105
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Genomic refseq ID NG_008103.1
Transcript refseq ID NM_000203.3
Total number of unique DNA variants reported 54
Total number of individuals with variant(s) 101
Total number of variants reported 193
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the IDUA database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the IDUA database, without patient data
Complete sequence variant listing Listing of all sequence variants in the IDUA database
Variants with no known pathogenicity Listing of all IDUA variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 5391
Entrez Gene 3425
OMIM - Gene 252800
UniProtKB (SwissProt/TrEMBL) P35475
External link Orphanet