EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Information
- Symbol
- EHHADH
- Type
- protein-coding
- Description
- enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
- Entrez Gene ID
- 1962
- Genome
- hg19
- Position
- chr3:184,908,412-184,971,837
- Genome
- hg38
- Position
- chr3:185,190,624-185,254,049
- MIM
- 607037 OMIM
- HGNC
- HGNC:3247 HGNC
- Ensembl
- ENSG00000113790 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 1 | 0 |
| Benign | 0 | 72 |
| Likely benign | 0 | 74 |
| Conflicting classifications of pathogenicity | 0 | 58 |
| Uncertain significance | 0 | 208 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
52 |
 |
288 |
 |
8 |
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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| Category | : |
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| 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
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| Category | : |
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ECHD |
| SYNONYM | FRTS3 |
| SYNONYM | L-PBE |
| SYNONYM | LBFP |
| SYNONYM | LBP |
| SYNONYM | MFE1 |
| SYNONYM | PBFE |
| MIM | 607037 OMIM |
| HGNC | HGNC:3247 HGNC |
| Ensembl | ENSG00000113790 Ensembl |
| AllianceGenome | HGNC:3247 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000440662.1 | hg38 | chr3 | 185,247,945 | 185,254,031 | 6,087 |
| ENST00000231887.8 | hg38 | chr3 | 185,190,624 | 185,254,049 | 63,426 |
| ENST00000456310.5 | hg38 | chr3 | 185,191,970 | 185,254,048 | 62,079 |
| ENST00000231887.8 | hg19 | chr3 | 184,908,412 | 184,971,837 | 63,426 |
| ENST00000456310.5 | hg19 | chr3 | 184,909,758 | 184,971,836 | 62,079 |
| ENST00000440662.1 | hg19 | chr3 | 184,965,733 | 184,971,819 | 6,087 |
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