ARHGDIA Rho GDP dissociation inhibitor alpha
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 12 |
Likely benign | 0 | 46 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 44 |
Ranking
ClinVar | |
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0 |
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0 |
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6 |
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94 |
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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
[No Data.]
Locus Zoom
Variants
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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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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 |
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Target data | : |
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 | GDIA1 |
SYNONYM | HEL-S-47e |
SYNONYM | NPHS8 |
SYNONYM | RHOGDI |
SYNONYM | RHOGDI-1 |
MIM | 601925 OMIM |
HGNC | HGNC:678 HGNC |
Ensembl | ENSG00000141522 Ensembl |
AllianceGenome | HGNC:678 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000581876.5 | hg38 | chr17 | 81,868,611 | 81,871,324 | 2,714 |
ENST00000580685.5 | hg38 | chr17 | 81,868,366 | 81,870,006 | 1,641 |
ENST00000400721.8 | hg38 | chr17 | 81,867,897 | 81,871,376 | 3,480 |
ENST00000269321.12 | hg38 | chr17 | 81,867,721 | 81,871,337 | 3,617 |
ENST00000584461.5 | hg38 | chr17 | 81,868,260 | 81,871,329 | 3,070 |
ENST00000541078.6 | hg38 | chr17 | 81,868,340 | 81,870,974 | 2,635 |
ENST00000269321.12 | hg19 | chr17 | 79,825,597 | 79,829,213 | 3,617 |
ENST00000400721.8 | hg19 | chr17 | 79,825,773 | 79,829,252 | 3,480 |
ENST00000541078.6 | hg19 | chr17 | 79,826,216 | 79,828,850 | 2,635 |
ENST00000580685.5 | hg19 | chr17 | 79,826,242 | 79,827,882 | 1,641 |
ENST00000581876.5 | hg19 | chr17 | 79,826,487 | 79,829,200 | 2,714 |
ENST00000584461.5 | hg19 | chr17 | 79,826,136 | 79,829,205 | 3,070 |
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