The PLOD3 gene homepage

Ehlers Danlos Syndrome Variant Database


General information
Gene symbol PLOD3
Gene name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
Chromosome 7
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_012148.1
Transcript reference NM_001084.4
Exon/intron information NM_001084.4 exon/intron table
Associated with diseases Lysyl hydroxylase 3 deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Raymond Dalgleish and Wei Kheng Teh
Total number of public variants reported 50
Unique public DNA variants reported 46
Individuals with public variants 67
Hidden variants 2
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 July 29, 2011
Date last updated September 17, 2021
Version PLOD3:210917

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_001084.4.
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/PLOD3
HGNC 9083
Entrez Gene 8985
PubMed articles PLOD3
OMIM - Gene 603066
OMIM - Diseases Lysyl hydroxylase 3 deficiency
HGMD PLOD3
GeneCards PLOD3
GeneTests PLOD3
Orphanet PLOD3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016374 7 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 NM_001084.4 NP_001075.1 50


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