CRAT carnitine O-acetyltransferase

Information
Symbol
CRAT
Type
protein-coding
Description
carnitine O-acetyltransferase
Entrez Gene ID
1384
Genome
hg19
Position
chr9:131,857,073-131,873,072
Genome
hg38
Position
chr9:129,094,794-129,110,793
MIM
600184 OMIM
HGNC
HGNC:2342 HGNC
Ensembl
ENSG00000095321 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 32
Likely benign 0 150
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 290
Ranking
ClinVar
0
0
60
400
4
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 CAT
SYNONYM CAT1
SYNONYM NBIA8
MIM 600184 OMIM
HGNC HGNC:2342 HGNC
Ensembl ENSG00000095321 Ensembl
AllianceGenome HGNC:2342
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000318080.7 hg38 chr9 129,094,794 129,110,793 16,000
ENST00000393384.3 hg38 chr9 129,107,334 129,110,711 3,378
ENST00000681725.1 hg38 chr9 129,095,838 129,110,791 14,954
ENST00000681325.1 hg38 chr9 129,094,806 129,110,791 15,986
ENST00000455396.2 hg38 chr9 129,094,806 129,110,681 15,876
ENST00000680117.1 hg38 chr9 129,094,826 129,110,791 15,966
ENST00000681627.1 hg38 chr9 129,094,811 129,110,737 15,927
ENST00000318080.7 hg19 chr9 131,857,073 131,873,072 16,000
ENST00000393384.3 hg19 chr9 131,869,613 131,872,990 3,378
ENST00000455396.2 hg19 chr9 131,857,085 131,872,960 15,876
ENST00000680117.1 hg19 chr9 131,857,105 131,873,070 15,966
ENST00000681325.1 hg19 chr9 131,857,085 131,873,070 15,986
ENST00000681627.1 hg19 chr9 131,857,090 131,873,016 15,927
ENST00000681725.1 hg19 chr9 131,858,117 131,873,070 14,954
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