AACS acetoacetyl-CoA synthetase

Information
Symbol
AACS
Type
protein-coding
Description
acetoacetyl-CoA synthetase
Entrez Gene ID
65985
Genome
hg19
Position
chr12:125,549,981-125,627,862
Genome
hg38
Position
chr12:125,065,435-125,143,316
MIM
614364 OMIM
HGNC
HGNC:21298 HGNC
Ensembl
ENSG00000081760 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 4
Uncertain significance 0 94
Ranking
ClinVar
0
0
0
110
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 ACSF1
SYNONYM SUR-5
MIM 614364 OMIM
HGNC HGNC:21298 HGNC
Ensembl ENSG00000081760 Ensembl
AllianceGenome HGNC:21298
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000316519.11 hg38 chr12 125,065,435 125,143,316 77,882
ENST00000316519.11 hg19 chr12 125,549,981 125,627,862 77,882
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