chr7:143321718:C>T Detail (hg38) (CLCN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:143,018,811-143,018,811 View the variant detail on this assembly version. |
| hg38 | chr7:143,321,718-143,321,718 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000083.2:c.566C>T | NP_000074.2:p.Ser189Phe |
| NR_046453.1:c.566C>T | ||
| Ensemble | ENST00000343257.7:c.566C>T | ENST00000343257.7:p.Ser189Phe |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000073
(TMGS000185) |
Kenjiro Kosaki |
Keio University IRUD |
ClinVar
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.495 | Generalized Myotonia of Thomsen | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) AND Congenital myotonia, autosomal dominant form | ClinVar | Detail |
| NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) AND not specified | ClinVar | 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
- rs121912810 dbSNP
- Genome
- hg38
- Position
- chr7:143,321,718-143,321,718
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser