DHRS13 dehydrogenase/reductase 13
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 52 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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54 |
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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
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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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 |
Search Word
Target data | : |
MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | SDR7C5 |
MIM | 616157 OMIM |
HGNC | HGNC:28326 HGNC |
Ensembl | ENSG00000167536 Ensembl |
AllianceGenome | HGNC:28326 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000426464.2 | hg38 | chr17 | 28,897,784 | 28,902,965 | 5,182 |
ENST00000394901.7 | hg38 | chr17 | 28,897,781 | 28,903,071 | 5,291 |
ENST00000378895.9 | hg38 | chr17 | 28,897,781 | 28,903,079 | 5,299 |
ENST00000394901.7 | hg19 | chr17 | 27,224,799 | 27,230,089 | 5,291 |
ENST00000378895.9 | hg19 | chr17 | 27,224,799 | 27,230,097 | 5,299 |
ENST00000426464.2 | hg19 | chr17 | 27,224,802 | 27,229,983 | 5,182 |
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