ACAT1 acetyl-CoA acetyltransferase 1

Information
Symbol
ACAT1
Type
protein-coding
Description
acetyl-CoA acetyltransferase 1
Entrez Gene ID
38
Genome
hg19
Position
chr11:107,992,299-108,018,219
Genome
hg38
Position
chr11:108,121,572-108,147,492
MIM
607809 OMIM
HGNC
HGNC:93 HGNC
Ensembl
ENSG00000075239 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 98 246
Likely pathogenic 0 190
Benign 0 104
Likely benign 0 606
Conflicting classifications of pathogenicity 0 50
Uncertain significance 4 232
Ranking
ClinVar
0
0
212
1,066
12
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 ACAT
SYNONYM MAT
SYNONYM T2
SYNONYM THIL
MIM 607809 OMIM
HGNC HGNC:93 HGNC
Ensembl ENSG00000075239 Ensembl
AllianceGenome HGNC:93
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000672284.1 hg38 chr11 108,116,695 108,147,594 30,900
ENST00000672367.1 hg38 chr11 108,121,567 108,147,603 26,037
ENST00000672354.1 hg38 chr11 108,121,572 108,147,492 25,921
ENST00000673531.1 hg38 chr11 108,121,567 108,147,470 25,904
ENST00000265838.9 hg38 chr11 108,121,567 108,147,603 26,037
ENST00000299355.10 hg38 chr11 108,121,567 108,136,939 15,373
ENST00000672907.1 hg38 chr11 108,121,567 108,147,603 26,037
ENST00000299355.10 hg19 chr11 107,992,294 108,007,666 15,373
ENST00000265838.9 hg19 chr11 107,992,294 108,018,330 26,037
ENST00000672284.1 hg19 chr11 107,987,422 108,018,321 30,900
ENST00000672354.1 hg19 chr11 107,992,299 108,018,219 25,921
ENST00000672907.1 hg19 chr11 107,992,294 108,018,330 26,037
ENST00000672367.1 hg19 chr11 107,992,294 108,018,330 26,037
ENST00000673531.1 hg19 chr11 107,992,294 108,018,197 25,904
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