RDH8 retinol dehydrogenase 8

Information
Symbol
RDH8
Type
protein-coding
Description
retinol dehydrogenase 8
Entrez Gene ID
50700
Genome
hg19
Position
chr19:10,124,159-10,132,955
Genome
hg38
Position
chr19:10,013,483-10,022,279
MIM
608575 OMIM
HGNC
HGNC:14423 HGNC
Ensembl
ENSG00000080511 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 2
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
22
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
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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 :
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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 :
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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 PRRDH
SYNONYM SDR28C2
MIM 608575 OMIM
HGNC HGNC:14423 HGNC
Ensembl ENSG00000080511 Ensembl
AllianceGenome HGNC:14423
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000591589.3 hg38 chr19 10,013,483 10,022,279 8,797
ENST00000651512.1 hg38 chr19 10,013,249 10,022,278 9,030
ENST00000651512.1 hg19 chr19 10,123,925 10,132,954 9,030
ENST00000591589.3 hg19 chr19 10,124,159 10,132,955 8,797
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