COL4A5 gene homepage

Originally variants in the COL4A5 gene were described based on a 53-exon gene. Variants in the database are based on a 55-exon gene, containing two additional exons (42 and 43), both containing 9 nucleotides. We do not exclude that some variant descriptions were not yet corrected
General information
Gene symbol COL4A5
Gene name collagen, type IV, alpha 5
Chromosome X
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_011977.1
Transcript reference NM_033380.2
Exon/intron information NM_033380.2 exon/intron table
Associated with diseases ASXL, Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Judy Savige
Total number of public variants reported 2348
Unique public DNA variants reported 1501
Individuals with public variants 2670
Hidden variants 0
Download all this gene's data Download all data
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 August 03, 2018
Version COL4A5:180803

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_033380.2.
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/COL4A5
External URL LRG_232t1
Orphanet
UK Alport genetic testing of COL4A3, COL4A4, COL4A5
HGNC 2207
Entrez Gene 1287
PubMed articles COL4A5
OMIM - Gene 303630
OMIM - Diseases ASXL (syndrome, Alport, X-linked recessive (ASXL))
HGMD COL4A5
GeneCards COL4A5
GeneTests COL4A5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024106 X transcript variant 2 NM_033380.2 NP_203699.1 2348


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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.