ECI1 enoyl-CoA delta isomerase 1

Information
Symbol
ECI1
Type
protein-coding
Description
enoyl-CoA delta isomerase 1
Entrez Gene ID
1632
Genome
hg19
Position
chr16:2,289,403-2,301,588
Genome
hg38
Position
chr16:2,239,402-2,251,587
MIM
600305 OMIM
HGNC
HGNC:2703 HGNC
Ensembl
ENSG00000167969 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
66
0
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 :
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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 DCI
MIM 600305 OMIM
HGNC HGNC:2703 HGNC
Ensembl ENSG00000167969 Ensembl
AllianceGenome HGNC:2703
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000570258.5 hg38 chr16 2,239,940 2,252,300 12,361
ENST00000301729.9 hg38 chr16 2,239,402 2,251,587 12,186
ENST00000562238.5 hg38 chr16 2,239,895 2,251,572 11,678
ENST00000301729.9 hg19 chr16 2,289,403 2,301,588 12,186
ENST00000562238.5 hg19 chr16 2,289,896 2,301,573 11,678
ENST00000570258.5 hg19 chr16 2,289,941 2,302,301 12,361
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