EPHX3 epoxide hydrolase 3
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 58 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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66 |
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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
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| 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 | |||||||||||
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ABHD9 |
| SYNONYM | EH3 |
| MIM | 617400 OMIM |
| HGNC | HGNC:23760 HGNC |
| Ensembl | ENSG00000105131 Ensembl |
| AllianceGenome | HGNC:23760 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000435261.5 | hg38 | chr19 | 15,226,922 | 15,233,047 | 6,126 |
| ENST00000602233.5 | hg38 | chr19 | 15,226,925 | 15,233,435 | 6,511 |
| ENST00000221730.8 | hg38 | chr19 | 15,226,919 | 15,232,448 | 5,530 |
| ENST00000221730.8 | hg19 | chr19 | 15,337,730 | 15,343,259 | 5,530 |
| ENST00000435261.5 | hg19 | chr19 | 15,337,733 | 15,343,858 | 6,126 |
| ENST00000602233.5 | hg19 | chr19 | 15,337,736 | 15,344,246 | 6,511 |
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