DHX40 DEAH-box helicase 40
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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42 |
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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 | ARG147 |
SYNONYM | DDX40 |
SYNONYM | PAD |
MIM | 607570 OMIM |
HGNC | HGNC:18018 HGNC |
Ensembl | ENSG00000108406 Ensembl |
AllianceGenome | HGNC:18018 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000251241.9 | hg38 | chr17 | 59,565,610 | 59,608,345 | 42,736 |
ENST00000425628.7 | hg38 | chr17 | 59,565,612 | 59,607,258 | 41,647 |
ENST00000251241.9 | hg19 | chr17 | 57,642,971 | 57,685,706 | 42,736 |
ENST00000425628.7 | hg19 | chr17 | 57,642,973 | 57,684,619 | 41,647 |
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