ECHS1 enoyl-CoA hydratase, short chain 1

Information
Symbol
ECHS1
Type
protein-coding
Description
enoyl-CoA hydratase, short chain 1
Entrez Gene ID
1892
Genome
hg19
Position
chr10:135,175,989-135,186,858
Genome
hg38
Position
chr10:133,362,485-133,373,354
MIM
602292 OMIM
HGNC
HGNC:3151 HGNC
Ensembl
ENSG00000127884 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 38 54
Likely pathogenic 9 62
Benign 0 82
Likely benign 3 252
Conflicting classifications of pathogenicity 0 46
not provided 2 4
Uncertain significance 0 184
Ranking
ClinVar
0
0
94
510
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
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 ECHS1D
SYNONYM SCEH
SYNONYM mECH
SYNONYM mECH1
MIM 602292 OMIM
HGNC HGNC:3151 HGNC
Ensembl ENSG00000127884 Ensembl
AllianceGenome HGNC:3151
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368547.4 hg38 chr10 133,362,485 133,373,354 10,870
ENST00000368547.4 hg19 chr10 135,175,989 135,186,858 10,870
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