SRGAP1 SLIT-ROBO Rho GTPase activating protein 1
Information
- Symbol
- SRGAP1
- Type
- protein-coding
- Description
- SLIT-ROBO Rho GTPase activating protein 1
- Entrez Gene ID
- 57522
- Genome
- hg19
- Position
- chr12:64,238,480-64,555,997
- Genome
- hg38
- Position
- chr12:63,844,700-64,162,217
- MIM
- 606523 OMIM
- HGNC
- HGNC:17382 HGNC
- Ensembl
- ENSG00000196935 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 28 |
Likely benign | 0 | 42 |
Uncertain significance | 0 | 104 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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16 |
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148 |
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8 |
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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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 | ARHGAP13 |
SYNONYM | NMTC2 |
MIM | 606523 OMIM |
HGNC | HGNC:17382 HGNC |
Ensembl | ENSG00000196935 Ensembl |
AllianceGenome | HGNC:17382 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000631006.3 | hg38 | chr12 | 63,843,761 | 64,147,833 | 304,073 |
ENST00000355086.8 | hg38 | chr12 | 63,844,700 | 64,162,217 | 317,518 |
ENST00000631006.3 | hg19 | chr12 | 64,237,541 | 64,541,613 | 304,073 |
ENST00000355086.8 | hg19 | chr12 | 64,238,480 | 64,555,997 | 317,518 |
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