ACOT1 acyl-CoA thioesterase 1

Information
Symbol
ACOT1
Type
protein-coding
Description
acyl-CoA thioesterase 1
Entrez Gene ID
641371
Genome
hg19
Position
chr14:74,003,847-74,010,500
Genome
hg38
Position
chr14:73,537,143-73,543,796
MIM
614313 OMIM
HGNC
HGNC:33128 HGNC
Ensembl
ENSG00000184227 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 8
Likely benign 0 12
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
66
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 ACH2
SYNONYM CTE-1
SYNONYM LACH2
MIM 614313 OMIM
HGNC HGNC:33128 HGNC
Ensembl ENSG00000184227 Ensembl
AllianceGenome HGNC:33128
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000557556.1 hg38 chr14 73,537,394 73,543,710 6,317
ENST00000311148.9 hg38 chr14 73,537,143 73,543,796 6,654
ENST00000311148.9 hg19 chr14 74,003,847 74,010,500 6,654
ENST00000557556.1 hg19 chr14 74,004,098 74,010,414 6,317
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