The PLOD1 gene homepage

Ehlers Danlos Syndrome Variant Database


General information
Gene symbol PLOD1
Gene name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
Chromosome 1
Chromosomal band p36.22
Imprinted Unknown
Genomic reference NG_008159.1
Transcript reference NM_000302.3
Exon/intron information NM_000302.3 exon/intron table
Associated with diseases EDS, EDSKSCL1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Raymond Dalgleish
Total number of public variants reported 281
Unique public DNA variants reported 172
Individuals with public variants 226
Hidden variants 5
Download all this gene's data Download all data
Notes 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.
Date created November 08, 2010
Date last updated February 26, 2024
Version PLOD1:240226

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_000302.3.
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/PLOD1
HGNC 9081
Entrez Gene 5351
PubMed articles PLOD1
OMIM - Gene 153454
OMIM - Diseases EDSKSCL1 (Ehlers-Danlos syndrome, kyphoscoliotic type, 1)
HGMD PLOD1
GeneCards PLOD1
GeneTests PLOD1
Orphanet PLOD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016372 1 procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 NM_000302.3 NP_000293.2 281


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