CDC42SE1 CDC42 small effector 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Uncertain significance | 0 | 14 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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18 |
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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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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 | SCIP1 |
SYNONYM | SPEC1 |
MIM | 619456 OMIM |
HGNC | HGNC:17719 HGNC |
Ensembl | ENSG00000197622 Ensembl |
AllianceGenome | HGNC:17719 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000439374.6 | hg38 | chr1 | 151,050,971 | 151,070,325 | 19,355 |
ENST00000357235.6 | hg38 | chr1 | 151,050,985 | 151,059,622 | 8,638 |
ENST00000540998.5 | hg38 | chr1 | 151,050,973 | 151,059,649 | 8,677 |
ENST00000439374.6 | hg19 | chr1 | 151,023,447 | 151,042,801 | 19,355 |
ENST00000540998.5 | hg19 | chr1 | 151,023,449 | 151,032,125 | 8,677 |
ENST00000357235.6 | hg19 | chr1 | 151,023,461 | 151,032,098 | 8,638 |
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