COL4A4 gene homepage

General information
Gene symbol COL4A4
Gene name collagen, type IV, alpha 4
Chromosome 2
Chromosomal band q35-q37
Imprinted Not imprinted
Genomic reference LRG_231
Transcript reference NM_000092.4
Exon/intron information NM_000092.4 exon/intron table
Associated with diseases ASAR
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Judy Savige
Total number of public variants reported 787
Unique public DNA variants reported 439
Individuals with public variants 743
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created August 31, 2010
Date last updated February 25, 2018
Version COL4A4:180225

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000092.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/COL4A4
External URL LRG_231t1
Orphanet
UK Alport genetic testing of COL4A4, COL4A3 and COL4A5
HGNC 2206
Entrez Gene 1286
PubMed articles COL4A4
OMIM - Gene 120131
OMIM - Diseases ASAR (syndrome, Alport, autosomal dominant (ASAR))
HGMD COL4A4
GeneCards COL4A4
GeneTests COL4A4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005465 2 collagen, type IV, alpha 4 NM_000092.4 NP_000083.3 787


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.