chr16:10743842:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:10,837,699-10,863,208 |
| hg38 | chr16:10,743,842-10,769,351 |
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 | obesity | As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S... | BeFree | 24780838 | Detail |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| <0.001 | syndactyly | NA | BeFree | Detail | |
| <0.001 | Memory impairment | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of lung | NA | GAD | Detail | |
| <0.001 | Congenital hypoplasia of lung | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- -
- dbSNP
- rs386563534 dbSNP
- Genome
- hg38
- Position
- chr16:10,743,842-10,769,351
- Variant Type
- snv
Genome browser