The COL11A1 gene homepage

General information
Gene symbol COL11A1
Gene name collagen, type XI, alpha 1
Chromosome 1
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_008033.2
Transcript reference NM_001190709.1, NM_080629.2
Exon/intron information NM_080629.2 exon/intron table
Associated with diseases FBCG-1, IDD, MRSHS, STL-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 410
Unique public DNA variants reported 287
Individuals with public variants 247
Hidden variants 58
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated September 17, 2021
Version COL11A1:210917

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_080629.2.
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 https://www.LOVD.nl/COL11A1
HGNC 2186
Entrez Gene 1301
PubMed articles COL11A1
OMIM - Gene 120280
OMIM - Diseases FBCG-1 (fibrochondrogenesis, type 1 (FBCG-1))
IDD (intervertebral disc disease (IDD))
MRSHS (Marshall syndrome (MRSHS))
STL-2 (Stickler syndrome, type II (STL-2))
HGMD COL11A1
GeneCards COL11A1
GeneTests COL11A1
Orphanet COL11A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023834 1 transcript variant E NM_001190709.1 NP_001177638.1 401
00024026 1 transcript variant B NM_080629.2 NP_542196.2 312


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2013-2021. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.