chr14:23428540:A>C Detail (hg38) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,897,749-23,897,749 View the variant detail on this assembly version. |
| hg38 | chr14:23,428,540-23,428,540 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.1538T>G | NP_000248.2:p.Phe513Cys |
| Ensemble | ENST00000355349.4:c.1538T>G | ENST00000355349.4:p.Phe513Cys |
| ENST00000713768.1:c.1538T>G | ENST00000713768.1:p.Phe513Cys |
Summary
MGeND
| Clinical significance |
Uncertain significance
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Uncertain significance
|
cardiomyopathy, familial hypertrophic |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2007-01-01 | no assertion criteria provided | hypertrophic cardiomyopathy 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | NA | CLINVAR | Detail | |
| 0.054 | hypertrophic cardiomyopathy | Genotype-phenotype correlative studies have implicated 8 particular mutations th... | BeFree | 12473556 | Detail |
| 0.156 | hypertrophic cardiomyopathy | Genotype-phenotype correlative studies have implicated 8 particular mutations th... | BeFree | 12473556 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys) AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi... | DisGeNET | Detail |
| Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi... | 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
- rs121913636 dbSNP
- Genome
- hg38
- Position
- chr14:23,428,540-23,428,540
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser