chr11:47364178:A>C Detail (hg19) (MYBPC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,364,178-47,364,178 |
| hg38 | chr11:47,342,627-47,342,627 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000256.3:c.1575T>G | NP_000247.2:p.Tyr525Ter |
| Ensemble | ENST00000399249.6:c.1575T>G | ENST00000399249.6:p.Tyr525Ter |
| ENST00000545968.6:c.1575T>G | ENST00000545968.6:p.Tyr525Ter |
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 |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2015-03-26 | criteria provided, single submitter | Primary familial hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2023-05-17 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2023-07-24 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | Cardiomyopathy, Familial Hypertrophic, 4 | NA | CLINVAR | Detail | |
| 0.247 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) AND Cardiovascular phenotype | ClinVar | Detail |
| NA | 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
- rs397515910 dbSNP
- Genome
- hg19
- Position
- chr11:47,364,178-47,364,178
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser