The CREB3L1 gene homepage


Osteogenesis Imperfecta Variant Database
General information
Gene symbol CREB3L1
Gene name cAMP responsive element binding protein 3-like 1
Chromosome 11
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_052854.3
Exon/intron information NM_052854.3 exon/intron table
Associated with diseases OI, OI16
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Gerard Pals, Sonna Stolk, Raymond Dalgleish, and Dimitra Micha
Total number of public variants reported 43
Unique public DNA variants reported 37
Individuals with public variants 7
Hidden variants 1
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.
This database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)
Date created May 03, 2013
Date last updated February 26, 2024
Version CREB3L1:240226

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_052854.3.
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/CREB3L1
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 18856
Entrez Gene 90993
PubMed articles CREB3L1
OMIM - Gene 616215
OMIM - Diseases OI16 (osteogenesis imperfecta type XVI (OI16))
HGMD CREB3L1
GeneCards CREB3L1
GeneTests CREB3L1
Orphanet CREB3L1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025612 11 cAMP responsive element binding protein 3-like 1 NM_052854.3 NP_443086.1 43


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 © 2013-2024. 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.

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