ACAT2 acetyl-CoA acetyltransferase 2

Information
Symbol
ACAT2
Type
protein-coding
Description
acetyl-CoA acetyltransferase 2
Entrez Gene ID
39
Genome
hg19
Position
chr6:160,183,077-160,200,144
Genome
hg38
Position
chr6:159,762,045-159,779,112
MIM
100678 OMIM
HGNC
HGNC:94 HGNC
Ensembl
ENSG00000120437 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 0
Benign 0 4
Likely benign 0 18
Uncertain significance 0 44
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
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
MIM 100678 OMIM
HGNC HGNC:94 HGNC
Ensembl ENSG00000120437 Ensembl
AllianceGenome HGNC:94
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367048.5 hg38 chr6 159,762,045 159,779,112 17,068
ENST00000367048.5 hg19 chr6 160,183,077 160,200,144 17,068
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