DDX52 DExD-box helicase 52
Clinical Significance
MGeND | ClinVar | |
---|---|---|
not provided | 1 | 0 |
Uncertain significance | 0 | 56 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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56 |
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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 |
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Target data | : |
MGeND data only
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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 | HUSSY19 |
SYNONYM | ROK1 |
MIM | 612500 OMIM |
HGNC | HGNC:20038 HGNC |
Ensembl | ENSG00000278053 Ensembl |
AllianceGenome | HGNC:20038 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000617633.5 | hg38 | chr17 | 37,609,739 | 37,643,446 | 33,708 |
ENST00000617633.5 | hg19 | chr17 | 35,969,787 | 36,003,475 | 33,689 |
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