CBR1 carbonyl reductase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 42 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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46 |
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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 | CBR |
SYNONYM | PG-9-KR |
SYNONYM | SDR21C1 |
SYNONYM | hCBR1 |
MIM | 114830 OMIM |
HGNC | HGNC:1548 HGNC |
Ensembl | ENSG00000159228 Ensembl |
AllianceGenome | HGNC:1548 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000439427.2 | hg38 | chr21 | 36,070,015 | 36,071,583 | 1,569 |
ENST00000290349.11 | hg38 | chr21 | 36,070,024 | 36,073,164 | 3,141 |
ENST00000399191.3 | hg38 | chr21 | 36,070,035 | 36,072,533 | 2,499 |
ENST00000530908.5 | hg38 | chr21 | 36,069,941 | 36,073,166 | 3,226 |
ENST00000530908.5 | hg19 | chr21 | 37,442,239 | 37,445,464 | 3,226 |
ENST00000439427.2 | hg19 | chr21 | 37,442,313 | 37,443,881 | 1,569 |
ENST00000290349.11 | hg19 | chr21 | 37,442,322 | 37,445,462 | 3,141 |
ENST00000399191.3 | hg19 | chr21 | 37,442,333 | 37,444,831 | 2,499 |
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