chr7:16087525:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:16,127,150-16,542,119 |
| hg38 | chr7:16,087,525-16,502,494 |
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 |
|---|---|---|---|---|---|
| 0.120 | Eye Abnormalities | NA | CTD_human | Detail | |
| <0.001 | gonadal dysgenesis | NA | BeFree | Detail | |
| 0.120 | hydrocephalus | NA | CTD_human | Detail | |
| 0.120 | myopathy | NA | CTD_human | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Turner syndrome | NA | BeFree | Detail | |
| 0.241 | Walker-Warburg congenital muscular dystrophy | NA | BeFree,CTD_human,ORPHANET | Detail | |
| <0.001 | Cobblestone Lissencephaly | NA | BeFree | Detail | |
| <0.001 | Muscular Dystrophies, Limb-Girdle | To our knowledge, this is the first report on the co-occurrence of both a CMD/ea... | BeFree | 25444434 | Detail |
| <0.001 | Congenital muscular dystrophy (disorder) | NA | BeFree | Detail | |
| <0.001 | Craniometaphyseal dysplasia, autosomal dominant | To our knowledge, this is the first report on the co-occurrence of both a CMD/ea... | BeFree | 25444434 | Detail |
| <0.001 | Congenital vascular anomaly | NA | BeFree | Detail | |
| 0.240 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | NA | ORPHANET,UNIPROT | 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 |
| To our knowledge, this is the first report on the co-occurrence of both a CMD/early LGMD intermediat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To our knowledge, this is the first report on the co-occurrence of both a CMD/early LGMD intermediat... | 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
- hg38
- Position
- chr7:16,087,525-16,502,494
- Variant Type
- snv
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