chr2:233243461:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:233,243,461-233,247,599 |
| hg38 | chr2:232,378,751-232,382,889 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Primary biliary cirrhosis | NA | BeFree | Detail | |
| <0.001 | choriocarcinoma | NA | BeFree | Detail | |
| <0.001 | Dwarfism | NA | BeFree | Detail | |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| 0.002 | hypophosphatasia | NA | BeFree | Detail | |
| <0.001 | liposarcoma | NA | BeFree | Detail | |
| 0.003 | Biliary cirrhosis | NA | LHGDN | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| <0.001 | nephrocalcinosis | NA | BeFree | Detail | |
| <0.001 | Nodule | NA | BeFree | Detail | |
| <0.001 | osteosarcoma | NA | BeFree | Detail | |
| <0.001 | seminoma | NA | BeFree | Detail | |
| <0.001 | pleomorphic lipoma | NA | BeFree | Detail | |
| <0.001 | Germ cell tumor | NA | BeFree | Detail | |
| <0.001 | Muscular Dystrophy, Facioscapulohumeral | NA | BeFree | Detail | |
| <0.001 | infantile hypophosphatasia | NA | BeFree | Detail | |
| <0.001 | Hypocalciuric hypercalcemia, familial, type 1 | NA | BeFree | Detail | |
| <0.001 | Osteosarcoma of bone | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of kidney | This is the first study that suggests deactivation of ERK1/2 by stimulation of A... | BeFree | 25241253 | Detail |
| <0.001 | renal carcinoma | This is the first study that suggests deactivation of ERK1/2 by stimulation of A... | BeFree | 25241253 | Detail |
| <0.001 | Non-Malignant Ascites Adverse Event | NA | BeFree | Detail | |
| <0.001 | HYPERPIGMENTATION, FAMILIAL PROGRESSIVE | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | The relative expression level of PLZF was also positively correlated with the AL... | BeFree | 25369784 | Detail |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | Immunohistochemistry, immunofluorescence and flow cytometry analysis showed decr... | BeFree | 24909115 | Detail |
| <0.001 | renal cell carcinoma | This is the first study that suggests deactivation of ERK1/2 by stimulation of A... | BeFree | 25241253 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This is the first study that suggests deactivation of ERK1/2 by stimulation of ALP in renal cancer c... | DisGeNET | Detail |
| This is the first study that suggests deactivation of ERK1/2 by stimulation of ALP in renal cancer c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The relative expression level of PLZF was also positively correlated with the ALP level (P=0.026) no... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Immunohistochemistry, immunofluorescence and flow cytometry analysis showed decreased ALP protein in... | DisGeNET | Detail |
| This is the first study that suggests deactivation of ERK1/2 by stimulation of ALP in renal cancer c... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr2:233,243,461-233,247,599
- Variant Type
- snv
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