chr11:47355475:G>A Detail (hg19) (MYBPC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,355,475-47,355,475 |
| hg38 | chr11:47,333,924-47,333,924 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000256.3:c.2992C>T | NP_000247.2:p.Gln998Ter |
| Ensemble | ENST00000545968.6:c.2992C>T | ENST00000545968.6:p.Gln998Ter |
| ENST00000399249.6:c.2992C>T | ENST00000399249.6:p.Gln998Ter |
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
|
2014-04-21 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2020-02-19 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2023-10-03 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | Cardiomyopathy, Familial Hypertrophic, 4 | Myosin binding protein C mutations and compound heterozygosity in hypertrophic c... | UNIPROT | 15519027 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) AND not provided | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) AND Cardiovascular phenotype | ClinVar | Detail |
| Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | 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
- rs11570112 dbSNP
- Genome
- hg19
- Position
- chr11:47,355,475-47,355,475
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser