HSD17B1 hydroxysteroid 17-beta dehydrogenase 1
Information
- Symbol
- HSD17B1
- Type
- protein-coding
- Description
- hydroxysteroid 17-beta dehydrogenase 1
- Entrez Gene ID
- 3292
- Genome
- hg19
- Position
- chr17:40,704,952-40,707,231
- Genome
- hg38
- Position
- chr17:42,552,934-42,555,213
- MIM
- 109684 OMIM
- HGNC
- HGNC:5210 HGNC
- Ensembl
- ENSG00000108786 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 56 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
64 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | 17-beta-HSD |
| SYNONYM | 20-alpha-HSD |
| SYNONYM | E2DH |
| SYNONYM | EDH17B2 |
| SYNONYM | EDHB17 |
| SYNONYM | HSD17 |
| SYNONYM | SDR28C1 |
| MIM | 109684 OMIM |
| HGNC | HGNC:5210 HGNC |
| Ensembl | ENSG00000108786 Ensembl |
| AllianceGenome | HGNC:5210 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000585807.6 | hg38 | chr17 | 42,552,923 | 42,555,214 | 2,292 |
| ENST00000225929.5 | hg38 | chr17 | 42,552,934 | 42,555,213 | 2,280 |
| ENST00000585807.6 | hg19 | chr17 | 40,704,941 | 40,707,232 | 2,292 |
| ENST00000225929.5 | hg19 | chr17 | 40,704,952 | 40,707,231 | 2,280 |
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