RDH8 retinol dehydrogenase 8
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 12 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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22 |
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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 |
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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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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 | PRRDH |
SYNONYM | SDR28C2 |
MIM | 608575 OMIM |
HGNC | HGNC:14423 HGNC |
Ensembl | ENSG00000080511 Ensembl |
AllianceGenome | HGNC:14423 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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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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