HSD17B8 hydroxysteroid 17-beta dehydrogenase 8

Information
Symbol
HSD17B8
Type
protein-coding
Description
hydroxysteroid 17-beta dehydrogenase 8
Entrez Gene ID
7923
Genome
hg19
Position
chr6:33,172,432-33,174,608
Genome
hg38
Position
chr6:33,204,655-33,206,831
MIM
601417 OMIM
HGNC
HGNC:3554 HGNC
Ensembl
ENSG00000204228 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
not provided 2 0
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
36
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
Category :
Search word :
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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 :
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
TypeID
SYNONYM D6S2245E
SYNONYM FABG
SYNONYM FABGL
SYNONYM H2-KE6
SYNONYM HKE6
SYNONYM KE6
SYNONYM RING2
SYNONYM SDR30C1
SYNONYM dJ1033B10.9
MIM 601417 OMIM
HGNC HGNC:3554 HGNC
Ensembl ENSG00000204228 Ensembl
AllianceGenome HGNC:3554
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374662.4 hg38 chr6 33,204,655 33,206,831 2,177
ENST00000374662.4 hg19 chr6 33,172,432 33,174,608 2,177
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