chr2:219423787:C>T Detail (hg38) (DES)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:220,288,509-220,288,509 View the variant detail on this assembly version. |
| hg38 | chr2:219,423,787-219,423,787 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001927.3:c.1255C>T | NP_001918.3:p.Pro419Ser |
| Ensemble | ENST00000373960.4:c.1255C>T | ENST00000373960.4:p.Pro419Ser |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
myofibrillar myopathy |
germline
|
MGS000074
(TMGS000150) |
Kenjiro Kosaki Nishino Ichizo |
Keio University National Center of Neurology and Psychiatry |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-03-07 | criteria provided, single submitter | not provided |
germline
not provided
|
Detail |
|
Pathogenic
|
2019-12-12 | criteria provided, multiple submitters, no conflicts | Desmin-related myofibrillar myopathy |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.564 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001927.4(DES):c.1255C>T (p.Pro419Ser) AND not provided | ClinVar | Detail |
| NM_001927.4(DES):c.1255C>T (p.Pro419Ser) AND Desmin-related myofibrillar myopathy | 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
- rs62635763 dbSNP
- Genome
- hg38
- Position
- chr2:219,423,787-219,423,787
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser