chr11:47337564:C>A Detail (hg38) (MYBPC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,359,115-47,359,115 View the variant detail on this assembly version. |
| hg38 | chr11:47,337,564-47,337,564 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000256.3:c.2429G>T | NP_000247.2:p.Arg810Leu |
| Ensemble | ENST00000399249.6:c.2429G>T | ENST00000399249.6:p.Arg810Leu |
| ENST00000545968.6:c.2429G>T | ENST00000545968.6:p.Arg810Leu |
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 |
|---|---|---|---|---|---|
Uncertain significance
|
2024-01-17 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2023-07-07 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
Likely pathogenic
|
2018-02-13 | criteria provided, single submitter |
germline
|
Detail | |
|
Likely pathogenic
|
2017-06-16 | criteria provided, single submitter | Primary familial hypertrophic cardiomyopathy |
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.2429G>T (p.Arg810Leu) AND not provided | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) AND Primary familial hypertrophic cardiomyopathy | 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
- rs375675796 dbSNP
- Genome
- hg38
- Position
- chr11:47,337,564-47,337,564
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser