The P3H1 gene homepage
Osteogenesis Imperfecta Variant Database
||prolyl 3-hydroxylase 1|
||NM_022356.3 exon/intron table|
|Associated with diseases
||Genomic reference sequence|
||Gerard Pals, Sonna Stolk, Raymond Dalgleish, and Dimitra Micha|
|Total number of public variants reported
|Unique public DNA variants reported
|Individuals with public variants
|Download all this gene's data
||Download all data|
The symbol and name for this gene were previously LEPRE1 and leucine proline-enriched proteoglycan (leprecan) 1; the changes to the gene symbol and name were made in December 2014.
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.
This database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)
||June 25, 2008|
|Date last updated
||May 01, 2023|
|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 © 2008-2023. 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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