ACAA1 acetyl-CoA acyltransferase 1

Information
Symbol
ACAA1
Type
protein-coding
Description
acetyl-CoA acyltransferase 1
Entrez Gene ID
30
Genome
hg19
Position
chr3:38,164,206-38,178,618
Genome
hg38
Position
chr3:38,122,715-38,137,127
MIM
604054 OMIM
HGNC
HGNC:82 HGNC
Ensembl
ENSG00000060971 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 12
Uncertain significance 0 48
Ranking
ClinVar
0
0
2
62
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 :
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 ACAA
SYNONYM Lnc-Myd88
SYNONYM PTHIO
SYNONYM THIO
MIM 604054 OMIM
HGNC HGNC:82 HGNC
Ensembl ENSG00000060971 Ensembl
AllianceGenome HGNC:82
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000450296.5 hg38 chr3 38,122,719 38,137,125 14,407
ENST00000333167.13 hg38 chr3 38,122,715 38,137,127 14,413
ENST00000301810.11 hg38 chr3 38,122,710 38,137,242 14,533
ENST00000301810.11 hg19 chr3 38,164,201 38,178,733 14,533
ENST00000333167.13 hg19 chr3 38,164,206 38,178,618 14,413
ENST00000450296.5 hg19 chr3 38,164,210 38,178,616 14,407
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