chr14:23419588:G>A Detail (hg38) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,888,797-23,888,797 View the variant detail on this assembly version. |
| hg38 | chr14:23,419,588-23,419,588 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.3748C>T | NP_000248.2:p.Arg1250Trp |
| Ensemble | ENST00000355349.4:c.3748C>T | ENST00000355349.4:p.Arg1250Trp |
| ENST00000713768.1:c.3748C>T | ENST00000713768.1:p.Arg1250Trp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2014-04-09 | criteria provided, single submitter | left ventricular noncompaction |
germline
|
Detail |
Pathogenic
|
2023-10-12 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
Uncertain significance
|
2019-07-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2022-02-07 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Uncertain significance
|
2018-09-17 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | CARDIOMYOPATHY, DILATED, 1S | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) AND Left ventricular noncompaction | ClinVar | Detail |
| NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) AND not specified | ClinVar | Detail |
| NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) AND Cardiovascular phenotype | 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
- rs727503249 dbSNP
- Genome
- hg38
- Position
- chr14:23,419,588-23,419,588
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser