RDH12 retinol dehydrogenase 12

Information
Symbol
RDH12
Type
protein-coding
Description
retinol dehydrogenase 12
Entrez Gene ID
145226
Genome
hg19
Position
chr14:68,168,603-68,201,168
Genome
hg38
Position
chr14:67,701,886-67,734,451
MIM
608830 OMIM
HGNC
HGNC:19977 HGNC
Ensembl
ENSG00000139988 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 9 186
Likely pathogenic 0 130
Benign 0 48
Likely benign 0 484
Conflicting classifications of pathogenicity 0 38
Uncertain significance 0 346
Ranking
ClinVar
0
0
178
910
36
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 :
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 LCA13
SYNONYM RP53
SYNONYM SDR7C2
MIM 608830 OMIM
HGNC HGNC:19977 HGNC
Ensembl ENSG00000139988 Ensembl
AllianceGenome HGNC:19977
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000267502.3 hg38 chr14 67,720,842 67,734,450 13,609
ENST00000551171.6 hg38 chr14 67,701,886 67,734,451 32,566
ENST00000551171.6 hg19 chr14 68,168,603 68,201,168 32,566
ENST00000267502.3 hg19 chr14 68,187,559 68,201,167 13,609
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