BDH2 3-hydroxybutyrate dehydrogenase 2
Information
- Symbol
- BDH2
- Type
- protein-coding
- Description
- 3-hydroxybutyrate dehydrogenase 2
- Entrez Gene ID
- 56898
- Genome
- hg19
- Position
- chr4:103,998,749-104,020,991
- Genome
- hg38
- Position
- chr4:103,077,592-103,099,834
- HGNC
- HGNC:32389 HGNC
- Ensembl
- ENSG00000164039 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
34 |
 |
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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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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 | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| 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 | DHRS6 |
| SYNONYM | EFA6R |
| SYNONYM | PRO20933 |
| SYNONYM | SDR15C1 |
| SYNONYM | UCPA-OR |
| SYNONYM | UNQ6308 |
| HGNC | HGNC:32389 HGNC |
| Ensembl | ENSG00000164039 Ensembl |
| AllianceGenome | HGNC:32389 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000296424.9 | hg38 | chr4 | 103,077,592 | 103,099,834 | 22,243 |
| ENST00000296424.9 | hg19 | chr4 | 103,998,749 | 104,020,991 | 22,243 |
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