RDH5 retinol dehydrogenase 5

Information
Symbol
RDH5
Type
protein-coding
Description
retinol dehydrogenase 5
Entrez Gene ID
5959
Genome
hg19
Position
chr12:56,114,177-56,118,489
Genome
hg38
Position
chr12:55,720,393-55,724,705
MIM
601617 OMIM
HGNC
HGNC:9940 HGNC
Ensembl
ENSG00000135437 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 24 74
Likely pathogenic 0 18
Benign 0 30
Likely benign 0 144
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 262
Ranking
ClinVar
0
0
64
438
10
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 9cRDH
SYNONYM HSD17B9
SYNONYM RDH1
SYNONYM SDR9C5
MIM 601617 OMIM
HGNC HGNC:9940 HGNC
Ensembl ENSG00000135437 Ensembl
AllianceGenome HGNC:9940
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000547072.5 hg38 chr12 55,720,367 55,724,606 4,240
ENST00000257895.10 hg38 chr12 55,720,393 55,724,705 4,313
ENST00000548082.1 hg38 chr12 55,720,413 55,724,705 4,293
ENST00000547072.5 hg19 chr12 56,114,151 56,118,390 4,240
ENST00000257895.10 hg19 chr12 56,114,177 56,118,489 4,313
ENST00000548082.1 hg19 chr12 56,114,197 56,118,489 4,293
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