HSD17B14 hydroxysteroid 17-beta dehydrogenase 14

Information
Symbol
HSD17B14
Type
protein-coding
Description
hydroxysteroid 17-beta dehydrogenase 14
Entrez Gene ID
51171
Genome
hg19
Position
chr19:49,316,275-49,339,748
Genome
hg38
Position
chr19:48,813,018-48,836,491
MIM
612832 OMIM
HGNC
HGNC:23238 HGNC
Ensembl
ENSG00000087076 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
20
2
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
Category :
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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 DHRS10
SYNONYM SDR47C1
SYNONYM retSDR3
MIM 612832 OMIM
HGNC HGNC:23238 HGNC
Ensembl ENSG00000087076 Ensembl
AllianceGenome HGNC:23238
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000599157.5 hg38 chr19 48,813,024 48,836,510 23,487
ENST00000263278.9 hg38 chr19 48,813,018 48,836,491 23,474
ENST00000263278.9 hg19 chr19 49,316,275 49,339,748 23,474
ENST00000599157.5 hg19 chr19 49,316,281 49,339,767 23,487
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