chr2:220288539:C>T Detail (hg19) (DES)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:220,288,539-220,288,539 |
| hg38 | chr2:219,423,817-219,423,817 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001927.3:c.1285C>T | NP_001918.3:p.Arg429Ter |
| Ensemble | ENST00000373960.4:c.1285C>T | ENST00000373960.4:p.Arg429Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2013-06-12 | criteria provided, single submitter | Primary dilated cardiomyopathy,Desmin-related myofibrillar myopathy,neuromuscular disease |
germline
|
Detail |
|
Likely pathogenic
|
2013-06-12 | criteria provided, single submitter | Primary dilated cardiomyopathy,Desmin-related myofibrillar myopathy,neuromuscular disease |
germline
|
Detail |
|
Likely pathogenic
|
2013-06-12 | criteria provided, single submitter | Primary dilated cardiomyopathy,Desmin-related myofibrillar myopathy,neuromuscular disease |
germline
|
Detail |
|
Pathogenic
|
2023-06-30 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-01-01 | criteria provided, single submitter | Desmin-related myofibrillar myopathy |
germline
|
Detail |
|
Pathogenic
|
2022-11-21 | criteria provided, single submitter | Primary familial dilated cardiomyopathy |
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.1285C>T (p.Arg429Ter) AND multiple conditions | ClinVar | Detail |
| NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND multiple conditions | ClinVar | Detail |
| NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND multiple conditions | ClinVar | Detail |
| NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND not provided | ClinVar | Detail |
| NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND Desmin-related myofibrillar myopathy | ClinVar | Detail |
| NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND Primary familial dilated cardiomyopathy | 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
- rs150974575 dbSNP
- Genome
- hg19
- Position
- chr2:220,288,539-220,288,539
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1560693641618497E-4
- Chromosome Counts in All Race (ExAC)
- 121380
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.647717910693689E-5
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