chr12:122527248:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:123,011,795-123,110,943 |
| hg38 | chr12:122,527,248-122,626,396 |
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 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | lipoma | NA | BeFree | Detail | |
| 0.002 | narcolepsy | NA | GAD | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | pleomorphic lipoma | NA | BeFree | Detail | |
| <0.001 | Pseudolymphoma | Copy number variations (CNVs) were not detected in IgG4-RODs and RLHs. | BeFree | 26120819 | Detail |
| <0.001 | Liposarcoma, well differentiated | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Copy number variations (CNVs) were not detected in IgG4-RODs and RLHs. | 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
- hg38
- Position
- chr12:122,527,248-122,626,396
- Variant Type
- snv
Genome browser