ARHGAP4 Rho GTPase activating protein 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 20 |
Likely benign | 0 | 36 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 8 | 0 |
Uncertain significance | 0 | 118 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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172 |
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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
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 | C1 |
SYNONYM | RGC1 |
SYNONYM | RhoGAP4 |
SYNONYM | SrGAP4 |
SYNONYM | p115 |
MIM | 300023 OMIM |
HGNC | HGNC:674 HGNC |
Ensembl | ENSG00000089820 Ensembl |
AllianceGenome | HGNC:674 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000370028.7 | hg38 | chrX | 153,907,376 | 153,926,260 | 18,885 |
ENST00000393721.5 | hg38 | chrX | 153,907,367 | 153,926,254 | 18,888 |
ENST00000370016.5 | hg38 | chrX | 153,907,454 | 153,926,244 | 18,791 |
ENST00000350060.10 | hg38 | chrX | 153,907,378 | 153,926,264 | 18,887 |
ENST00000370028.7 | hg19 | chrX | 153,172,830 | 153,191,714 | 18,885 |
ENST00000350060.10 | hg19 | chrX | 153,172,832 | 153,191,718 | 18,887 |
ENST00000370016.5 | hg19 | chrX | 153,172,908 | 153,191,698 | 18,791 |
ENST00000393721.5 | hg19 | chrX | 153,172,821 | 153,191,708 | 18,888 |
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