LOVD COL4A5 homepage

General information
Gene name collagen, type IV, alpha 5
Gene symbol COL4A5
Chromosome Location Xq22
Database location grenada.lumc.nl
Curator Judy Savige
PubMed references View all (unique) PubMed references in the COL4A5 database
Date of creation August 31, 2010
Last update December 23, 2013
Version COL4A5 131223
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Genomic refseq ID NG_011977.1
Transcript refseq ID NM_000495.3
Total number of unique DNA variants reported 1168
Total number of individuals with variant(s) 1871
Total number of variants reported 1951
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the COL4A5 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 COL4A5 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the COL4A5 database
Variants with no known pathogenicity Listing of all COL4A5 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

Links to other resources
HGNC 2207
Entrez Gene 1287
OMIM - Gene 303630
UniProtKB (SwissProt/TrEMBL) P29400
External link #1 Orphanet
External link #2 UK Alport genetic testing of COL4A5, COL4A3 and COL4A4
External link #3 COL4A5 LRG_232t1

Copyright & disclaimer
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