chr7:143330847:C>T Detail (hg38) (CLCN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:143,027,940-143,027,940 View the variant detail on this assembly version. |
| hg38 | chr7:143,330,847-143,330,847 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000083.2:c.929C>T | NP_000074.2:p.Thr310Met |
| NR_046453.1:c.929C>T | ||
| Ensemble | ENST00000343257.7:c.929C>T | ENST00000343257.7:p.Thr310Met |
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 |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Batten-Turner congenital myopathy |
germline
|
Detail | |
Pathogenic
|
2016-05-03 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Congenital myotonia, autosomal recessive form |
germline
|
Detail | |
|
Pathogenic
|
2024-01-14 | criteria provided, single submitter | Congenital myotonia, autosomal dominant form,Congenital myotonia, autosomal recessive form |
germline
|
Detail |
|
Pathogenic
|
2024-01-14 | criteria provided, single submitter | Congenital myotonia, autosomal dominant form,Congenital myotonia, autosomal recessive form |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.388 | myotonia congenita | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) AND Batten-Turner congenital myopathy | ClinVar | Detail |
| NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) AND not provided | ClinVar | Detail |
| NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) AND Congenital myotonia, autosomal recessive form | ClinVar | Detail |
| NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) AND multiple conditions | ClinVar | Detail |
| NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) AND multiple conditions | 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
- rs80356691 dbSNP
- Genome
- hg38
- Position
- chr7:143,330,847-143,330,847
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser