HSD17B7 hydroxysteroid 17-beta dehydrogenase 7

Information
Symbol
HSD17B7
Type
protein-coding
Description
hydroxysteroid 17-beta dehydrogenase 7
Entrez Gene ID
51478
Genome
hg19
Position
chr1:162,760,492-162,782,613
Genome
hg38
Position
chr1:162,790,702-162,812,823
MIM
606756 OMIM
HGNC
HGNC:5215 HGNC
Ensembl
ENSG00000132196 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 2
Uncertain significance 0 44
Ranking
ClinVar
0
0
0
54
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
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 PRAP
SYNONYM SDR37C1
MIM 606756 OMIM
HGNC HGNC:5215 HGNC
Ensembl ENSG00000132196 Ensembl
AllianceGenome HGNC:5215
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000254521.8 hg38 chr1 162,790,702 162,812,823 22,122
ENST00000367915.1 hg38 chr1 162,790,723 162,793,052 2,330
ENST00000254521.8 hg19 chr1 162,760,492 162,782,613 22,122
ENST00000367915.1 hg19 chr1 162,760,513 162,762,842 2,330
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