ECH1 enoyl-CoA hydratase 1

Information
Symbol
ECH1
Type
protein-coding
Description
enoyl-CoA hydratase 1
Entrez Gene ID
1891
Genome
hg19
Position
chr19:39,306,062-39,322,434
Genome
hg38
Position
chr19:38,815,422-38,831,794
MIM
600696 OMIM
HGNC
HGNC:3149 HGNC
Ensembl
ENSG00000104823 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Uncertain significance 0 44
Ranking
ClinVar
0
0
0
42
14
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
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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 :
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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 HPXEL
MIM 600696 OMIM
HGNC HGNC:3149 HGNC
Ensembl ENSG00000104823 Ensembl
AllianceGenome HGNC:3149
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000221418.9 hg38 chr19 38,815,422 38,831,794 16,373
ENST00000221418.9 hg19 chr19 39,306,062 39,322,434 16,373
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