EPHX1 epoxide hydrolase 1

Information
Symbol
EPHX1
Type
protein-coding
Description
epoxide hydrolase 1
Entrez Gene ID
2052
Genome
hg19
Position
chr1:225,998,114-226,033,260
Genome
hg38
Position
chr1:225,810,412-225,845,559
MIM
132810 OMIM
HGNC
HGNC:3401 HGNC
Ensembl
ENSG00000143819 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 84
Likely benign 0 10
Uncertain significance 0 46
Ranking
ClinVar
0
0
12
126
2
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 :
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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 EPHX
SYNONYM EPOX
SYNONYM HYL1
SYNONYM MEH
MIM 132810 OMIM
HGNC HGNC:3401 HGNC
Ensembl ENSG00000143819 Ensembl
AllianceGenome HGNC:3401
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366837.5 hg38 chr1 225,825,354 225,845,563 20,210
ENST00000272167.10 hg38 chr1 225,810,124 225,845,563 35,440
ENST00000614058.4 hg38 chr1 225,810,412 225,845,559 35,148
ENST00000272167.10 hg19 chr1 225,997,826 226,033,264 35,439
ENST00000614058.4 hg19 chr1 225,998,114 226,033,260 35,147
ENST00000366837.5 hg19 chr1 226,013,055 226,033,264 20,210
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