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
0
0
0
22
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
Target data :
MGeND data only
Category :
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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
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
Entry Origin Type Annotation
TypeID
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
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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