chr11:47346365:G>T Detail (hg38) (MYBPC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,367,916-47,367,916 View the variant detail on this assembly version. |
| hg38 | chr11:47,346,365-47,346,365 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000256.3:c.932C>A | NP_000247.2:p.Ser311Ter |
| Ensemble | ENST00000399249.6:c.932C>A | ENST00000399249.6:p.Ser311Ter |
| ENST00000545968.6:c.932C>A | ENST00000545968.6:p.Ser311Ter |
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
|
2019-01-17 | criteria provided, single submitter | Primary familial hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2020-11-10 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2015-09-21 | criteria provided, single submitter | hypertrophic cardiomyopathy 4 |
germline
|
Detail |
|
Pathogenic
|
2024-02-05 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2022-11-03 | 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.932C>A (p.Ser311Ter) AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) AND not provided | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) AND Hypertrophic cardiomyopathy 4 | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) 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
- rs193922386 dbSNP
- Genome
- hg38
- Position
- chr11:47,346,365-47,346,365
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser