chr11:47338519:C>T Detail (hg38) (MYBPC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,360,070-47,360,070 View the variant detail on this assembly version. |
| hg38 | chr11:47,338,519-47,338,519 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000256.3:c.2308+1G>A | |
| Ensemble | ENST00000399249.6:c.2308+1G>A | |
| ENST00000545968.6:c.2308+1G>A |
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
|
2017-05-31 | criteria provided, single submitter | hypertrophic cardiomyopathy 4 |
germline
|
Detail |
|
Pathogenic
|
2014-11-27 | no assertion criteria provided | Primary familial hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2021-12-21 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2024-01-14 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2020-04-21 | criteria provided, single submitter | hypertrophic cardiomyopathy 1 |
germline
|
Detail |
|
Pathogenic
|
2023-08-09 | criteria provided, multiple submitters, no conflicts | 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.2308+1G>A AND Hypertrophic cardiomyopathy 4 | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2308+1G>A AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2308+1G>A AND not provided | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2308+1G>A AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2308+1G>A AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2308+1G>A AND Cardiomyopathy | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs112738974 dbSNP
- Genome
- hg38
- Position
- chr11:47,338,519-47,338,519
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser