PLEKHG6 pleckstrin homology and RhoGEF domain containing G6
Information
- Symbol
- PLEKHG6
- Type
- protein-coding
- Description
- pleckstrin homology and RhoGEF domain containing G6
- Entrez Gene ID
- 55200
- Genome
- hg19
- Position
- chr12:6,419,848-6,437,672
- Genome
- hg38
- Position
- chr12:6,310,682-6,328,506
- MIM
- 611743 OMIM
- HGNC
- HGNC:25562 HGNC
- Ensembl
- ENSG00000008323 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 140 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
152 |
 |
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
[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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ARHGEF46 |
| SYNONYM | MyoGEF |
| MIM | 611743 OMIM |
| HGNC | HGNC:25562 HGNC |
| Ensembl | ENSG00000008323 Ensembl |
| AllianceGenome | HGNC:25562 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000684764.1 | hg38 | chr12 | 6,310,682 | 6,328,506 | 17,825 |
| ENST00000449001.6 | hg38 | chr12 | 6,312,651 | 6,328,485 | 15,835 |
| ENST00000536531.5 | hg38 | chr12 | 6,310,738 | 6,318,973 | 8,236 |
| ENST00000304581.8 | hg38 | chr12 | 6,319,460 | 6,328,506 | 9,047 |
| ENST00000011684.11 | hg38 | chr12 | 6,310,436 | 6,328,505 | 18,070 |
| ENST00000396988.7 | hg38 | chr12 | 6,310,933 | 6,328,505 | 17,573 |
| ENST00000011684.11 | hg19 | chr12 | 6,419,602 | 6,437,671 | 18,070 |
| ENST00000684764.1 | hg19 | chr12 | 6,419,848 | 6,437,672 | 17,825 |
| ENST00000536531.5 | hg19 | chr12 | 6,419,904 | 6,428,139 | 8,236 |
| ENST00000396988.7 | hg19 | chr12 | 6,420,099 | 6,437,671 | 17,573 |
| ENST00000449001.6 | hg19 | chr12 | 6,421,817 | 6,437,651 | 15,835 |
| ENST00000304581.8 | hg19 | chr12 | 6,428,626 | 6,437,672 | 9,047 |
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