EGLN1 egl-9 family hypoxia inducible factor 1

Information
Symbol
EGLN1
Type
protein-coding
Description
egl-9 family hypoxia inducible factor 1
Entrez Gene ID
54583
Genome
hg19
Position
chr1:231,499,502-231,558,033
Genome
hg38
Position
chr1:231,363,756-231,422,287
MIM
606425 OMIM
HGNC
HGNC:1232 HGNC
Ensembl
ENSG00000135766 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Benign 0 82
Likely benign 0 724
Conflicting classifications of pathogenicity 0 52
not provided 6 0
Uncertain significance 2 980
Ranking
ClinVar
0
0
382
1,396
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 C1orf12
SYNONYM ECYT3
SYNONYM HALAH
SYNONYM HIF-PH2
SYNONYM HIFPH2
SYNONYM HPH-2
SYNONYM HPH2
SYNONYM PHD2
SYNONYM SM20
SYNONYM ZMYND6
MIM 606425 OMIM
HGNC HGNC:1232 HGNC
Ensembl ENSG00000135766 Ensembl
AllianceGenome HGNC:1232
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366641.4 hg38 chr1 231,363,756 231,422,287 58,532
ENST00000366641.4 hg19 chr1 231,499,502 231,558,033 58,532
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