The PLOD1 gene homepage

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
Associated with diseases EDS, EDS-5, EDS-6
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 67
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 4
Date created October 30, 2013
Date last updated September 28, 2016
Version PLOD1:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:9081
Entrez Gene 5351
PubMed articles PLOD1
OMIM - Gene 153454
OMIM - Diseases EDS (Ehlers-Danlos syndrome)
EDS-5 (Ehlers-Danlos syndrome, type VI (EDS-5))
EDS-6 (Ehlers-Danlos syndrome, type VI (EDS-6, Nevo syndrome))
HGMD PLOD1
GeneCards PLOD1
GeneTests PLOD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005940 1 procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 NM_000302.3 NP_000293.2 67


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