chr11:47354145:A>G Detail (hg19) (MYBPC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,354,145-47,354,145 |
| hg38 | chr11:47,332,594-47,332,594 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000256.3:c.3599T>C | NP_000247.2:p.Leu1200Pro |
| Ensemble | ENST00000545968.6:c.3599T>C | ENST00000545968.6:p.Leu1200Pro |
| ENST00000399249.6:c.3599T>C | ENST00000399249.6:p.Leu1200Pro |
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
|
2011-01-31 | criteria provided, single submitter | Primary dilated cardiomyopathy |
germline
|
Detail |
|
Likely pathogenic
|
criteria provided, single submitter | hypertrophic cardiomyopathy 4 |
germline
|
Detail | |
Uncertain significance
|
2020-01-20 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2016-07-27 | criteria provided, single submitter | cardiomyopathy |
germline
|
Detail |
|
Uncertain significance
|
2021-10-06 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Uncertain significance
|
2023-05-08 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Left ventricular noncompaction 10 | NA | CLINVAR | Detail | |
| 0.440 | Cardiomyopathy, Familial Hypertrophic, 4 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) AND Primary dilated cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) AND Hypertrophic cardiomyopathy 4 | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) AND not provided | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) AND Cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) 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
- rs397516028 dbSNP
- Genome
- hg19
- Position
- chr11:47,354,145-47,354,145
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser