chr4:100197526:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:100,197,526-100,212,142 |
| hg38 | chr4:99,276,369-99,290,985 |
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 | Coronary heart disease | NA | BeFree | Detail | |
| <0.001 | Hypercalciuria | Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-func... | BeFree | 26052899 | Detail |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| 0.002 | Parkinson disease | NA | GAD | Detail | |
| <0.001 | substance dependence | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Xanthoma tendinosum | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Hypoparathyroidism - autosomal dominant | The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Ac... | BeFree | 26052899 | Detail |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | Epithelial ovarian cancer | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Hyperlipoproteinemia Type IIa | Homozygous familial hypercholesterolemia (HoFH) represents the most severe lipop... | BeFree | 24987866 | Detail |
| <0.001 | Enzyme inhibition disorder | NA | BeFree | Detail | |
| 0.003 | drug dependence | NA | BeFree,GAD | Detail | |
| 0.002 | colorectal cancer | NA | GAD | Detail | |
| <0.001 | liver carcinoma | The role of autophagy was evaluated in alcohol dehydrogenase 1 (ADH1)-transfecte... | BeFree | 25457208 | Detail |
| 0.008 | Alcoholic Intoxication, Chronic | NA | BeFree,GAD | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| 0.002 | As If Personality | NA | GAD | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of th... | 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 |
| The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sen... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Homozygous familial hypercholesterolemia (HoFH) represents the most severe lipoprotein disorder, gen... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The role of autophagy was evaluated in alcohol dehydrogenase 1 (ADH1)-transfected human hepatocellul... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- chr4:100,197,526-100,212,142
- Variant Type
- snv
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