The P3H1 gene homepage


Osteogenesis Imperfecta Variant Database
General information
Gene symbol P3H1
Gene name prolyl 3-hydroxylase 1
Chromosome 1
Chromosomal band p34.2
Imprinted Unknown
Genomic reference NG_008123.1
Transcript reference NM_022356.3
Exon/intron information NM_022356.3 exon/intron table
Associated with diseases OI, OI8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Raymond Dalgleish, Gerard Pals, and Sonna Stolk
Total number of public variants reported 182
Unique public DNA variants reported 105
Individuals with public variants 381
Hidden variants 9
Download all this gene's data Download all data
Notes

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)
Date created June 25, 2008
Date last updated September 17, 2021
Version P3H1:210917

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_022356.3.
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/P3H1
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 19316
Entrez Gene 64175
PubMed articles P3H1
OMIM - Gene 610339
OMIM - Diseases OI8 (osteogenesis imperfecta type VIII (OI8))
HGMD P3H1
GeneCards P3H1
GeneTests P3H1
Orphanet P3H1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000180 1 transcript variant 1 NM_022356.3 NP_001139761.1 182


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