DDX55 DEAD-box helicase 55
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 6 |
Uncertain significance | 0 | 86 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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92 |
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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
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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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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MIM | 620176 OMIM |
HGNC | HGNC:20085 HGNC |
Ensembl | ENSG00000111364 Ensembl |
AllianceGenome | HGNC:20085 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000238146.9 | hg38 | chr12 | 123,602,099 | 123,620,943 | 18,845 |
ENST00000538744.5 | hg38 | chr12 | 123,602,128 | 123,620,144 | 18,017 |
ENST00000421670.3 | hg38 | chr12 | 123,618,016 | 123,620,422 | 2,407 |
ENST00000238146.9 | hg19 | chr12 | 124,086,646 | 124,105,490 | 18,845 |
ENST00000538744.5 | hg19 | chr12 | 124,086,675 | 124,104,691 | 18,017 |
ENST00000421670.3 | hg19 | chr12 | 124,102,563 | 124,104,969 | 2,407 |
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