HSD17B12 hydroxysteroid 17-beta dehydrogenase 12

Information
Symbol
HSD17B12
Type
protein-coding
Description
hydroxysteroid 17-beta dehydrogenase 12
Entrez Gene ID
51144
Genome
hg19
Position
chr11:43,702,288-43,878,165
Genome
hg38
Position
chr11:43,680,738-43,856,615
MIM
609574 OMIM
HGNC
HGNC:18646 HGNC
Ensembl
ENSG00000149084 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
40
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 KAR
SYNONYM SDR12C1
MIM 609574 OMIM
HGNC HGNC:18646 HGNC
Ensembl ENSG00000149084 Ensembl
AllianceGenome HGNC:18646
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000278353.10 hg38 chr11 43,680,738 43,856,615 175,878
ENST00000637401.1 hg38 chr11 43,680,795 43,855,250 174,456
ENST00000395700.4 hg38 chr11 43,680,781 43,755,536 74,756
ENST00000278353.10 hg19 chr11 43,702,288 43,878,165 175,878
ENST00000395700.4 hg19 chr11 43,702,331 43,777,086 74,756
ENST00000637401.1 hg19 chr11 43,702,345 43,876,800 174,456
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