DHRS3 dehydrogenase/reductase 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 7 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 48 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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61 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | CNALPTC1 |
SYNONYM | DD83.1 |
SYNONYM | RDH17 |
SYNONYM | Rsdr1 |
SYNONYM | SDR1 |
SYNONYM | SDR16C1 |
SYNONYM | retSDR1 |
MIM | 612830 OMIM |
HGNC | HGNC:17693 HGNC |
Ensembl | ENSG00000162496 Ensembl |
AllianceGenome | HGNC:17693 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000616661.5 | hg38 | chr1 | 12,567,910 | 12,618,210 | 50,301 |
ENST00000714544.1 | hg38 | chr1 | 12,567,910 | 12,619,109 | 51,200 |
ENST00000714545.1 | hg38 | chr1 | 12,567,910 | 12,619,145 | 51,236 |
ENST00000714542.1 | hg38 | chr1 | 12,567,910 | 12,585,498 | 17,589 |
ENST00000714546.1 | hg38 | chr1 | 12,567,910 | 12,620,133 | 52,224 |
ENST00000714541.1 | hg38 | chr1 | 12,567,909 | 12,619,171 | 51,263 |
ENST00000714541.1 | hg19 | chr1 | 12,627,938 | 12,679,177 | 51,240 |
ENST00000714542.1 | hg19 | chr1 | 12,627,939 | 12,645,514 | 17,576 |
ENST00000616661.5 | hg19 | chr1 | 12,627,939 | 12,678,216 | 50,278 |
ENST00000714544.1 | hg19 | chr1 | 12,627,939 | 12,679,115 | 51,177 |
ENST00000714545.1 | hg19 | chr1 | 12,627,939 | 12,679,151 | 51,213 |
ENST00000714546.1 | hg19 | chr1 | 12,627,939 | 12,680,139 | 52,201 |
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