chr14:23896793:C>T Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,896,793-23,896,793 |
| hg38 | chr14:23,427,584-23,427,584 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.1888+1G>A | |
| Ensemble | ENST00000713769.1:c.1888+1G>A | |
| ENST00000355349.4:c.1888+1G>A |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2014-07-04 | no assertion criteria provided | Primary dilated cardiomyopathy |
germline
|
Detail |
|
Uncertain significance
|
2017-01-09 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2021-09-22 | reviewed by expert panel | cardiomyopathy |
germline
|
Detail |
|
Likely pathogenic
|
2019-10-14 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.262 | Cardiomyopathy, Dilated | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.1888+1G>A AND Primary dilated cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1888+1G>A AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.1888+1G>A AND Cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1888+1G>A AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs113186231 dbSNP
- Genome
- hg19
- Position
- chr14:23,896,793-23,896,793
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8468
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 117866
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.484210883545722E-6
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