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, EDS5, EDSKSCL1, Gastroschisis, MYP
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Raymond Dalgleish and Wei Kheng Teh
Total number of public variants reported 249
Unique public DNA variants reported 151
Individuals with public variants 218
Hidden variants 5
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 September 17, 2021
Version PLOD1:210917

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_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 EDS5 (Ehlers-Danlos syndrome, type VI (EDS-5))
EDSKSCL1 (Ehlers-Danlos syndrome, kyphoscoliotic type, 1)
Gastroschisis
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_000293.2 249


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