HSD17B6 hydroxysteroid 17-beta dehydrogenase 6

Information
Symbol
HSD17B6
Type
protein-coding
Description
hydroxysteroid 17-beta dehydrogenase 6
Entrez Gene ID
8630
Genome
hg19
Position
chr12:57,146,233-57,181,574
Genome
hg38
Position
chr12:56,752,449-56,787,790
MIM
606623 OMIM
HGNC
HGNC:23316 HGNC
Ensembl
ENSG00000025423 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 4
Likely benign 0 4
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
56
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 :
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 HSE
SYNONYM RODH
SYNONYM SDR9C6
MIM 606623 OMIM
HGNC HGNC:23316 HGNC
Ensembl ENSG00000025423 Ensembl
AllianceGenome HGNC:23316
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000554150.5 hg38 chr12 56,752,453 56,787,576 35,124
ENST00000555805.5 hg38 chr12 56,752,161 56,787,736 35,576
ENST00000322165.1 hg38 chr12 56,763,324 56,787,790 24,467
ENST00000555159.5 hg38 chr12 56,752,161 56,787,736 35,576
ENST00000554643.5 hg38 chr12 56,752,449 56,787,790 35,342
ENST00000555159.5 hg19 chr12 57,145,945 57,181,520 35,576
ENST00000555805.5 hg19 chr12 57,145,945 57,181,520 35,576
ENST00000554643.5 hg19 chr12 57,146,233 57,181,574 35,342
ENST00000554150.5 hg19 chr12 57,146,237 57,181,360 35,124
ENST00000322165.1 hg19 chr12 57,157,108 57,181,574 24,467
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