AKR1C3 aldo-keto reductase family 1 member C3

Information
Symbol
AKR1C3
Type
protein-coding
Description
aldo-keto reductase family 1 member C3
Entrez Gene ID
8644
Genome
hg19
Position
chr10:5,136,606-5,149,878
Genome
hg38
Position
chr10:5,094,414-5,107,686
MIM
603966 OMIM
HGNC
HGNC:386 HGNC
Ensembl
ENSG00000196139 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 6
not provided 0 2
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
54
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 :
Filtering :
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 DD3
SYNONYM DDX
SYNONYM HA1753
SYNONYM HAKRB
SYNONYM HAKRe
SYNONYM HSD17B5
SYNONYM PGFS
SYNONYM hluPGFS
MIM 603966 OMIM
HGNC HGNC:386 HGNC
Ensembl ENSG00000196139 Ensembl
AllianceGenome HGNC:386
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000439082.7 hg38 chr10 5,048,812 5,107,503 58,692
ENST00000380554.5 hg38 chr10 5,094,414 5,107,686 13,273
ENST00000605149.5 hg38 chr10 5,077,638 5,107,680 30,043
ENST00000439082.7 hg19 chr10 5,091,004 5,149,695 58,692
ENST00000605149.5 hg19 chr10 5,119,830 5,149,872 30,043
ENST00000380554.5 hg19 chr10 5,136,606 5,149,878 13,273
Genome browser