chr7:143047665:>TCAC Detail (hg19) (CLCN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:143,047,665-143,047,665 |
| hg38 | chr7:143,350,572-143,350,572 |
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 |
|---|---|---|---|---|---|
| 0.388 | myotonia congenita | NA | CLINVAR | Detail |
Annotation
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
- rs80356698 dbSNP
- Genome
- hg19
- Position
- chr7:143,047,665-143,047,665
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- TCAC
Genome browser