CROT carnitine O-octanoyltransferase
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 64 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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70 |
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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
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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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Category | : |
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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 | COT |
MIM | 606090 OMIM |
HGNC | HGNC:2366 HGNC |
Ensembl | ENSG00000005469 Ensembl |
AllianceGenome | HGNC:2366 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000419147.6 | hg38 | chr7 | 87,345,681 | 87,399,481 | 53,801 |
ENST00000412227.6 | hg38 | chr7 | 87,345,693 | 87,360,116 | 14,424 |
ENST00000442291.1 | hg38 | chr7 | 87,346,335 | 87,398,474 | 52,140 |
ENST00000331536.8 | hg38 | chr7 | 87,345,664 | 87,399,794 | 54,131 |
ENST00000331536.8 | hg19 | chr7 | 86,974,980 | 87,029,110 | 54,131 |
ENST00000419147.6 | hg19 | chr7 | 86,974,997 | 87,028,797 | 53,801 |
ENST00000412227.6 | hg19 | chr7 | 86,975,009 | 86,989,432 | 14,424 |
ENST00000442291.1 | hg19 | chr7 | 86,975,651 | 87,027,790 | 52,140 |
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