COL4A1 gene homepage

General information
Gene symbol COL4A1
Gene name collagen, type IV, alpha 1
Chromosome 13
Chromosomal band q34
Imprinted Unknown
Genomic reference NG_011544.2
Transcript reference NM_001845.4
Exon/intron information NM_001845.4 exon/intron table
Associated with diseases HANAC, ICH, ID, POREN-1, RATOR, Brain small vessel disease with hemorrhage
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Jacopo Celli, Janneke Weiss and Alessandra Maugeri
Total number of public variants reported 272
Unique public DNA variants reported 193
Individuals with public variants 69
Hidden variants 44
Download all this gene's data Download all data
Date created January 18, 2011
Date last updated July 12, 2019
Version COL4A1:190712

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_001845.4.
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/COL4A1
External URL Orphanet
HGNC 2202
Entrez Gene 1282
PubMed articles COL4A1
OMIM - Gene 120130
OMIM - Diseases HANAC (angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC))
ICH (hemorrhage, intracerebral, susceptibility to (ICH))
POREN-1 (porencephaly, type 1 (POREN-1))
RATOR (tortuosity, arteries, retinal (RATOR))
Brain small vessel disease with hemorrhage
HGMD COL4A1
GeneCards COL4A1
GeneTests COL4A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001443 13 collagen, type IV, alpha 1 NM_001845.4 NP_001836.2 272


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