chr7:143036383:C>T Detail (hg19) (CLCN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:143,036,383-143,036,383 |
| hg38 | chr7:143,339,290-143,339,290 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000083.2:c.1439C>T | NP_000074.2:p.Pro480Leu |
| NR_046453.1:c.1439C>T | ||
| Ensemble | ENST00000343257.7:c.1439C>T | ENST00000343257.7:p.Pro480Leu |
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
|
2003-04-01 | no assertion criteria provided | Congenital myotonia, autosomal dominant form |
germline
|
Detail |
not provided
|
no assertion provided | Batten-Turner congenital myopathy |
unknown
|
Detail | |
|
Pathogenic
|
2019-07-06 | criteria provided, single submitter | Congenital myotonia, autosomal recessive form,Congenital myotonia, autosomal dominant form |
germline
|
Detail |
|
Pathogenic
|
2019-07-06 | criteria provided, single submitter | Congenital myotonia, autosomal recessive form,Congenital myotonia, autosomal dominant form |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.495 | Generalized Myotonia of Thomsen | NA | CLINVAR | Detail | |
| 0.388 | myotonia congenita | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) AND Congenital myotonia, autosomal dominant form | ClinVar | Detail |
| NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) AND Batten-Turner congenital myopathy | ClinVar | Detail |
| NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) AND multiple conditions | ClinVar | Detail |
| NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) AND multiple conditions | ClinVar | 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
- rs80356694 dbSNP
- Genome
- hg19
- Position
- chr7:143,036,383-143,036,383
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser