HSD17B11 hydroxysteroid 17-beta dehydrogenase 11
Information
- Symbol
- HSD17B11
- Type
- protein-coding
- Description
- hydroxysteroid 17-beta dehydrogenase 11
- Entrez Gene ID
- 51170
- Genome
- hg19
- Position
- chr4:88,257,667-88,312,340
- Genome
- hg38
- Position
- chr4:87,336,515-87,391,188
- MIM
- 612831 OMIM
- HGNC
- HGNC:22960 HGNC
- Ensembl
- ENSG00000198189 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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22 |
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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 |
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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 |
---|---|
SYNONYM | 17-BETA-HSD11 |
SYNONYM | 17-BETA-HSDXI |
SYNONYM | 17BHSD11 |
SYNONYM | DHRS8 |
SYNONYM | PAN1B |
SYNONYM | RETSDR2 |
SYNONYM | SDR16C2 |
MIM | 612831 OMIM |
HGNC | HGNC:22960 HGNC |
Ensembl | ENSG00000198189 Ensembl |
AllianceGenome | HGNC:22960 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000358290.9 | hg38 | chr4 | 87,336,515 | 87,391,188 | 54,674 |
ENST00000507286.1 | hg38 | chr4 | 87,337,275 | 87,391,149 | 53,875 |
ENST00000358290.9 | hg19 | chr4 | 88,257,667 | 88,312,340 | 54,674 |
ENST00000507286.1 | hg19 | chr4 | 88,258,427 | 88,312,301 | 53,875 |
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