chr14:23894084:C>A Detail (hg19) (MYH7, LOC126861898)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,894,084-23,894,084 |
| hg38 | chr14:23,424,875-23,424,875 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.2573G>T | NP_000248.2:p.Arg858Leu |
| Ensemble | ENST00000713769.1:c.2573G>T | ENST00000713769.1:p.Arg858Leu |
| ENST00000355349.4:c.2573G>T | ENST00000355349.4:p.Arg858Leu |
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 |
|---|---|---|---|---|---|
|
Uncertain significance
|
2024-01-11 | criteria provided, single submitter | cardiomyopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | Mutations profile in Chinese patients with hypertrophic cardiomyopathy. | UNIPROT | 15563892 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.2573G>T (p.Arg858Leu) AND Cardiomyopathy | ClinVar | Detail |
| Mutations profile in Chinese patients with hypertrophic cardiomyopathy. | 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
- rs2856897 dbSNP
- Genome
- hg19
- Position
- chr14:23,894,084-23,894,084
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8652
- 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)
- 121396
- 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)
- 8.237503706876667E-6
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