chr2:219420939:G>C Detail (hg38) (DES)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:220,285,661-220,285,661 View the variant detail on this assembly version. |
| hg38 | chr2:219,420,939-219,420,939 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001927.3:c.1009G>C | NP_001918.3:p.Ala337Pro |
| Ensemble | ENST00000373960.4:c.1009G>C | ENST00000373960.4:p.Ala337Pro |
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
|
2024-03-01 | criteria provided, single submitter | not provided |
germline
not provided
|
Detail |
|
Pathogenic
|
2019-11-18 | criteria provided, single submitter | dilated cardiomyopathy 1I |
unknown
|
Detail |
|
Pathogenic
|
1998-08-01 | no assertion criteria provided | Desmin-related myofibrillar myopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.564 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | NA | CLINVAR | Detail | |
| 0.564 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | We examined 22 patients from 8 families with dominantly inherited myofibrillar o... | UNIPROT | 10717012 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001927.4(DES):c.1009G>C (p.Ala337Pro) AND not provided | ClinVar | Detail |
| NM_001927.4(DES):c.1009G>C (p.Ala337Pro) AND Dilated cardiomyopathy 1I | ClinVar | Detail |
| NM_001927.4(DES):c.1009G>C (p.Ala337Pro) AND Desmin-related myofibrillar myopathy | ClinVar | Detail |
| NA | DisGeNET | Detail |
| We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myo... | 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
- rs59962885 dbSNP
- Genome
- hg38
- Position
- chr2:219,420,939-219,420,939
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser