RACGAP1 Rac GTPase activating protein 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Benign | 0 | 28 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 46 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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76 |
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6 |
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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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 | CDAN3B |
SYNONYM | CYK4 |
SYNONYM | HsCYK-4 |
SYNONYM | ID-GAP |
SYNONYM | MgcRacGAP |
MIM | 604980 OMIM |
HGNC | HGNC:9804 HGNC |
Ensembl | ENSG00000161800 Ensembl |
AllianceGenome | HGNC:9804 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000312377.10 | hg38 | chr12 | 49,989,162 | 50,025,494 | 36,333 |
ENST00000551016.5 | hg38 | chr12 | 49,989,979 | 50,016,720 | 26,742 |
ENST00000454520.6 | hg38 | chr12 | 49,989,164 | 50,025,400 | 36,237 |
ENST00000427314.6 | hg38 | chr12 | 49,989,162 | 50,025,438 | 36,277 |
ENST00000547905.5 | hg38 | chr12 | 49,990,268 | 50,025,494 | 35,227 |
ENST00000548961.5 | hg38 | chr12 | 49,976,923 | 49,992,358 | 15,436 |
ENST00000427314.6 | hg19 | chr12 | 50,382,945 | 50,419,221 | 36,277 |
ENST00000312377.10 | hg19 | chr12 | 50,382,945 | 50,419,277 | 36,333 |
ENST00000454520.6 | hg19 | chr12 | 50,382,947 | 50,419,183 | 36,237 |
ENST00000548961.5 | hg19 | chr12 | 50,370,706 | 50,386,141 | 15,436 |
ENST00000547905.5 | hg19 | chr12 | 50,384,051 | 50,419,277 | 35,227 |
ENST00000551016.5 | hg19 | chr12 | 50,383,762 | 50,410,503 | 26,742 |
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