ACOT9 acyl-CoA thioesterase 9
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 10 |
not provided | 6 | 0 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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34 |
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2 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | ACATE2 |
SYNONYM | CGI-16 |
SYNONYM | MT-ACT48 |
SYNONYM | MTACT48 |
MIM | 300862 OMIM |
HGNC | HGNC:17152 HGNC |
Ensembl | ENSG00000123130 Ensembl |
AllianceGenome | HGNC:17152 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000379303.10 | hg38 | chrX | 23,701,055 | 23,743,276 | 42,222 |
ENST00000492081.1 | hg38 | chrX | 23,707,831 | 23,743,250 | 35,420 |
ENST00000336430.11 | hg38 | chrX | 23,703,671 | 23,743,276 | 39,606 |
ENST00000379295.5 | hg38 | chrX | 23,703,684 | 23,766,475 | 62,792 |
ENST00000379303.10 | hg19 | chrX | 23,719,172 | 23,761,393 | 42,222 |
ENST00000336430.11 | hg19 | chrX | 23,721,788 | 23,761,393 | 39,606 |
ENST00000379295.5 | hg19 | chrX | 23,721,801 | 23,784,592 | 62,792 |
ENST00000492081.1 | hg19 | chrX | 23,725,948 | 23,761,367 | 35,420 |
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