ARHGAP9 Rho GTPase activating protein 9
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 10 |
Likely benign | 0 | 26 |
not provided | 2 | 0 |
Uncertain significance | 0 | 92 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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10 |
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112 |
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4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 |
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SYNONYM | 10C |
SYNONYM | RGL1 |
MIM | 610576 OMIM |
HGNC | HGNC:14130 HGNC |
Ensembl | ENSG00000123329 Ensembl |
AllianceGenome | HGNC:14130 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000424809.6 | hg38 | chr12 | 57,472,264 | 57,479,632 | 7,369 |
ENST00000430041.6 | hg38 | chr12 | 57,472,270 | 57,478,198 | 5,929 |
ENST00000393791.8 | hg38 | chr12 | 57,472,269 | 57,479,866 | 7,598 |
ENST00000550288.6 | hg38 | chr12 | 57,472,266 | 57,488,726 | 16,461 |
ENST00000393797.7 | hg38 | chr12 | 57,472,264 | 57,488,814 | 16,551 |
ENST00000424809.6 | hg19 | chr12 | 57,866,047 | 57,873,415 | 7,369 |
ENST00000393797.7 | hg19 | chr12 | 57,866,047 | 57,882,597 | 16,551 |
ENST00000393791.8 | hg19 | chr12 | 57,866,052 | 57,873,649 | 7,598 |
ENST00000430041.6 | hg19 | chr12 | 57,866,053 | 57,871,981 | 5,929 |
ENST00000550288.6 | hg19 | chr12 | 57,866,049 | 57,882,509 | 16,461 |
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