DEUP1 deuterosome assembly protein 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 4 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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2 |
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2 |
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
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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Target data | : |
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 | CCDC67 |
MIM | 617148 OMIM |
HGNC | HGNC:26344 HGNC |
Ensembl | ENSG00000165325 Ensembl |
AllianceGenome | HGNC:26344 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000531792.5 | hg38 | chr11 | 93,329,998 | 93,396,367 | 66,370 |
ENST00000530273.5 | hg38 | chr11 | 93,330,645 | 93,352,511 | 21,867 |
ENST00000525646.1 | hg38 | chr11 | 93,383,468 | 93,438,470 | 55,003 |
ENST00000527307.2 | hg38 | chr11 | 93,332,222 | 93,357,475 | 25,254 |
ENST00000298050.9 | hg38 | chr11 | 93,330,742 | 93,438,470 | 107,729 |
ENST00000531792.5 | hg19 | chr11 | 93,063,164 | 93,129,533 | 66,370 |
ENST00000530273.5 | hg19 | chr11 | 93,063,811 | 93,085,677 | 21,867 |
ENST00000298050.9 | hg19 | chr11 | 93,063,908 | 93,171,636 | 107,729 |
ENST00000527307.2 | hg19 | chr11 | 93,065,388 | 93,090,641 | 25,254 |
ENST00000525646.1 | hg19 | chr11 | 93,116,634 | 93,171,636 | 55,003 |
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