HSD11B2 hydroxysteroid 11-beta dehydrogenase 2

Information
Symbol
HSD11B2
Type
protein-coding
Description
hydroxysteroid 11-beta dehydrogenase 2
Entrez Gene ID
3291
Genome
hg19
Position
chr16:67,465,024-67,471,456
Genome
hg38
Position
chr16:67,431,121-67,437,553
MIM
614232 OMIM
HGNC
HGNC:5209 HGNC
Ensembl
ENSG00000176387 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 26
Likely pathogenic 0 10
Benign 0 26
Likely benign 0 60
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 90
Ranking
ClinVar
0
0
36
142
26
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 AME
SYNONYM AME1
SYNONYM HSD11K
SYNONYM HSD2
SYNONYM SDR9C3
MIM 614232 OMIM
HGNC HGNC:5209 HGNC
Ensembl ENSG00000176387 Ensembl
AllianceGenome HGNC:5209
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000326152.6 hg38 chr16 67,431,121 67,437,553 6,433
ENST00000326152.6 hg19 chr16 67,465,024 67,471,456 6,433
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