DDX47 DEAD-box helicase 47
Clinical Significance
MGeND | ClinVar | |
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Uncertain significance | 0 | 74 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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74 |
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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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Entry | Origin | Type | Annotation |
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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 | E4-DBP |
SYNONYM | HQ0256 |
SYNONYM | MSTP162 |
SYNONYM | RRP3 |
MIM | 615428 OMIM |
HGNC | HGNC:18682 HGNC |
Ensembl | ENSG00000213782 Ensembl |
AllianceGenome | HGNC:18682 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000352940.8 | hg38 | chr12 | 12,813,316 | 12,829,979 | 16,664 |
ENST00000358007.7 | hg38 | chr12 | 12,813,346 | 12,829,981 | 16,636 |
ENST00000352940.8 | hg19 | chr12 | 12,966,250 | 12,982,913 | 16,664 |
ENST00000358007.7 | hg19 | chr12 | 12,966,280 | 12,982,915 | 16,636 |
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