PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

Information
Symbol
PLOD1
Type
protein-coding
Description
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Entrez Gene ID
5351
Genome
hg19
Position
chr1:11,994,774-12,035,594
Genome
hg38
Position
chr1:11,934,717-11,975,537
MIM
153454 OMIM
HGNC
HGNC:9081 HGNC
Ensembl
ENSG00000083444 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 100
Likely pathogenic 0 68
Benign 0 150
Likely benign 0 1,074
Conflicting classifications of pathogenicity 0 110
Uncertain significance 0 818
Ranking
ClinVar
0
0
612
1,542
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM EDS6
SYNONYM EDSKCL1
SYNONYM LH
SYNONYM LH1
SYNONYM LLH
SYNONYM PLOD
MIM 153454 OMIM
HGNC HGNC:9081 HGNC
Ensembl ENSG00000083444 Ensembl
AllianceGenome HGNC:9081
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000196061.5 hg38 chr1 11,934,717 11,975,537 40,821
ENST00000196061.5 hg19 chr1 11,994,774 12,035,594 40,821
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