ARHGEF12 Rho guanine nucleotide exchange factor 12
Information
- Symbol
- ARHGEF12
- Type
- protein-coding
- Description
- Rho guanine nucleotide exchange factor 12
- Entrez Gene ID
- 23365
- Genome
- hg19
- Position
- chr11:120,207,122-120,360,646
- Genome
- hg38
- Position
- chr11:120,336,413-120,489,937
- MIM
- 604763 OMIM
- HGNC
- HGNC:14193 HGNC
- Ensembl
- ENSG00000196914 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 10 |
| not provided | 34 | 0 |
| Uncertain significance | 0 | 116 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
134 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | LARG |
| SYNONYM | PRO2792 |
| MIM | 604763 OMIM |
| HGNC | HGNC:14193 HGNC |
| Ensembl | ENSG00000196914 Ensembl |
| AllianceGenome | HGNC:14193 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000397843.7 | hg38 | chr11 | 120,336,413 | 120,489,937 | 153,525 |
| ENST00000532993.5 | hg38 | chr11 | 120,385,294 | 120,489,034 | 103,741 |
| ENST00000356641.7 | hg38 | chr11 | 120,336,914 | 120,487,060 | 150,147 |
| ENST00000397843.7 | hg19 | chr11 | 120,207,122 | 120,360,646 | 153,525 |
| ENST00000356641.7 | hg19 | chr11 | 120,207,623 | 120,357,769 | 150,147 |
| ENST00000532993.5 | hg19 | chr11 | 120,256,003 | 120,359,743 | 103,741 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | OG |
| start | 120,207,617 |
| Gene Symbol | ARHGEF12 |
| Entrez GeneId | 23,365 |
| Chr Band | 11q23.3 |
| end | 120,360,644 |
| chr | chr11 |
| Name | RHO guanine nucleotide exchange factor (GEF) 12 (LARG) |
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