The COL3A1 gene homepage

Ehlers Danlos Syndrome Variant Database


General information
Gene symbol COL3A1
Gene name collagen type III alpha 1 chain
Chromosome 2
Chromosomal band q32.2
Imprinted Unknown
Genomic reference LRG_3
Transcript reference NM_000090.3
Exon/intron information NM_000090.3 exon/intron table
Associated with diseases acrogeria, EDS, EDSVASC, IS-1, SCAD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Raymond Dalgleish and Wei Kheng Teh
Total number of public variants reported 1405
Unique public DNA variants reported 834
Individuals with public variants 1359
Hidden variants 3
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created July 03, 2008
Date last updated February 08, 2021
Version COL3A1:210208

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_000090.3.
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 https://www.LOVD.nl/COL3A1
HGNC 2201
Entrez Gene 1281
PubMed articles COL3A1
OMIM - Gene 120180
OMIM - Diseases acrogeria
EDSVASC (syndrome, Ehlers-Danlos, vascular type (EDSVASC EDS4 EDSIV))
IS-1 (scoliosis, idiopathic, susceptibility to, type 1 (IS-1))
SCAD (artery dissection, coronary, spontaneous (SCAD))
HGMD COL3A1
GeneCards COL3A1
GeneTests COL3A1
Orphanet COL3A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005458 2 collagen, type III, alpha 1 NM_000090.3 NP_000081.1 1405


Copyright & disclaimer
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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.