chr7:143036382:C>A Detail (hg19) (CLCN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:143,036,382-143,036,382 |
| hg38 | chr7:143,339,289-143,339,289 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000083.2:c.1438C>A | NP_000074.2:p.Pro480Thr |
| NR_046453.1:c.1438C>A | ||
| Ensemble | ENST00000343257.7:c.1438C>A | ENST00000343257.7:p.Pro480Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2022-04-06 | no assertion criteria provided | Congenital myotonia, autosomal dominant form |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.388 | myotonia congenita | NA | CLINVAR | Detail | |
| 0.495 | Generalized Myotonia of Thomsen | A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia conge... | BeFree | 11353420 | Detail |
| 0.388 | myotonia congenita | A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia conge... | BeFree | 11353420 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr) AND Congenital myotonia, autosomal dominant form | ClinVar | Detail |
| NA | DisGeNET | Detail |
| A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita. | DisGeNET | Detail |
| A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita. | 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
- rs80356695 dbSNP
- Genome
- hg19
- Position
- chr7:143,036,382-143,036,382
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser