AKR1D1 aldo-keto reductase family 1 member D1

Information
Symbol
AKR1D1
Type
protein-coding
Description
aldo-keto reductase family 1 member D1
Entrez Gene ID
6718
Genome
hg19
Position
chr7:137,761,205-137,803,051
Genome
hg38
Position
chr7:138,076,459-138,118,305
MIM
604741 OMIM
HGNC
HGNC:388 HGNC
Ensembl
ENSG00000122787 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 10
Likely pathogenic 0 26
Benign 0 76
Likely benign 0 44
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 222
Ranking
ClinVar
0
0
42
328
4
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 3o5bred
SYNONYM CBAS2
SYNONYM SRD5B1
MIM 604741 OMIM
HGNC HGNC:388 HGNC
Ensembl ENSG00000122787 Ensembl
AllianceGenome HGNC:388
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000432161.5 hg38 chr7 138,076,432 138,116,913 40,482
ENST00000242375.8 hg38 chr7 138,076,459 138,118,305 41,847
ENST00000411726.6 hg38 chr7 138,076,467 138,117,986 41,520
ENST00000432161.5 hg19 chr7 137,761,178 137,801,659 40,482
ENST00000242375.8 hg19 chr7 137,761,205 137,803,051 41,847
ENST00000411726.6 hg19 chr7 137,761,213 137,802,732 41,520
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