CDC42EP4 CDC42 effector protein 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 10 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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86 |
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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 |
Search Word
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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Search word | : | |
Filtering | : |
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 |
---|---|
SYNONYM | BORG4 |
SYNONYM | CEP4 |
SYNONYM | KAIA1777 |
MIM | 605468 OMIM |
HGNC | HGNC:17147 HGNC |
Ensembl | ENSG00000179604 Ensembl |
AllianceGenome | HGNC:17147 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000335793.4 | hg38 | chr17 | 73,283,624 | 73,312,001 | 28,378 |
ENST00000581014.1 | hg38 | chr17 | 73,285,178 | 73,311,997 | 26,820 |
ENST00000439510.2 | hg38 | chr17 | 73,283,625 | 73,311,993 | 28,369 |
ENST00000630622.1 | hg38 | chr17 | 73,285,458 | 73,286,500 | 1,043 |
ENST00000335793.4 | hg19 | chr17 | 71,279,763 | 71,308,140 | 28,378 |
ENST00000439510.2 | hg19 | chr17 | 71,279,764 | 71,308,132 | 28,369 |
ENST00000581014.1 | hg19 | chr17 | 71,281,317 | 71,308,136 | 26,820 |
ENST00000630622.1 | hg19 | chr17 | 71,281,597 | 71,282,639 | 1,043 |
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