chr14:23415176:A>G Detail (hg38) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,884,385-23,884,385 View the variant detail on this assembly version. |
| hg38 | chr14:23,415,176-23,415,176 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.5378T>C | NP_000248.2:p.Leu1793Pro |
| Ensemble | ENST00000355349.4:c.5378T>C | ENST00000355349.4:p.Leu1793Pro |
| ENST00000713768.1:c.5378T>C | ENST00000713768.1:p.Leu1793Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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 |
|---|---|---|---|---|---|
|
Pathogenic
|
2009-04-14 | no assertion criteria provided | hypertrophic cardiomyopathy 1 |
germline
|
Detail |
|
Pathogenic
|
2009-04-14 | no assertion criteria provided | Left ventricular noncompaction 5 |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2021-02-02 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2019-09-30 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2009-04-14 | no assertion criteria provided | Myosin storage myopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | NA | CLINVAR | Detail | |
| 0.362 | MYOPATHY, MYOSIN STORAGE (disorder) | NA | CLINVAR | Detail | |
| 0.362 | MYOPATHY, MYOSIN STORAGE (disorder) | Striking phenotypic variability in two familial cases of myosin storage myopathy... | BeFree | 19138847 | Detail |
| 0.120 | Left ventricular noncompaction 5 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
| NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) AND Left ventricular noncompaction 5 | ClinVar | Detail |
| NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) AND Myosin storage myopathy | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793... | DisGeNET | 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
- rs121913654 dbSNP
- Genome
- hg38
- Position
- chr14:23,415,176-23,415,176
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser