chr14:23898487:C>A Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,898,487-23,898,487 |
| hg38 | chr14:23,429,278-23,429,278 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.1208G>T | NP_000248.2:p.Arg403Leu |
| Ensemble | ENST00000713768.1:c.1208G>T | ENST00000713768.1:p.Arg403Leu |
| ENST00000355349.4:c.1208G>T | ENST00000355349.4:p.Arg403Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
1993-12-01 | no assertion criteria provided | hypertrophic cardiomyopathy 1 |
germline
|
Detail |
|
Pathogenic
|
2020-05-28 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2020-09-11 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2020-07-23 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.054 | hypertrophic cardiomyopathy | Faster cross-bridge detachment and increased tension cost in human hypertrophic ... | BeFree | 24928957 | Detail |
| 0.360 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | NA | CLINVAR | Detail | |
| 0.163 | Cardiomyopathies | The R403L mutation in the MYH7 gene had been previously identified in this famil... | BeFree | 15386449 | Detail |
| 0.252 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
| NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) AND Cardiovascular phenotype | ClinVar | Detail |
| Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by ... | 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
- rs121913624 dbSNP
- Genome
- hg19
- Position
- chr14:23,898,487-23,898,487
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser