chr2:219420349:A>G Detail (hg38) (DES)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:220,285,071-220,285,071 View the variant detail on this assembly version. |
| hg38 | chr2:219,420,349-219,420,349 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001927.3:c.735+3A>G | |
| Ensemble | ENST00000373960.4:c.735+3A>G |
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
|
2017-10-23 | criteria provided, multiple submitters, no conflicts | not provided |
germline
not provided
|
Detail |
|
Pathogenic
|
2014-10-10 | criteria provided, single submitter | Primary dilated cardiomyopathy,Desmin-related myofibrillar myopathy |
germline
|
Detail |
|
Pathogenic
|
2014-10-10 | criteria provided, single submitter | Primary dilated cardiomyopathy,Desmin-related myofibrillar myopathy |
germline
|
Detail |
|
Pathogenic
|
2023-01-09 | criteria provided, single submitter | Desmin-related myofibrillar myopathy |
germline
|
Detail |
|
Pathogenic
|
2020-12-18 | criteria provided, single submitter |
germline
|
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.735+3A>G AND not provided | ClinVar | Detail |
| NM_001927.4(DES):c.735+3A>G AND multiple conditions | ClinVar | Detail |
| NM_001927.4(DES):c.735+3A>G AND multiple conditions | ClinVar | Detail |
| NM_001927.4(DES):c.735+3A>G AND Desmin-related myofibrillar myopathy | ClinVar | Detail |
| NM_001927.4(DES):c.735+3A>G AND Cardiovascular phenotype | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs267607483 dbSNP
- Genome
- hg38
- Position
- chr2:219,420,349-219,420,349
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser