chr11:47335042:G>A Detail (hg38) (MYBPC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,356,593-47,356,593 View the variant detail on this assembly version. |
| hg38 | chr11:47,335,042-47,335,042 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000256.3:c.2905C>T | NP_000247.2:p.Gln969Ter |
| Ensemble | ENST00000399249.6:c.2905C>T | ENST00000399249.6:p.Gln969Ter |
| ENST00000545968.6:c.2905C>T | ENST00000545968.6:p.Gln969Ter |
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
|
2023-06-22 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2015-07-21 | criteria provided, single submitter | hypertrophic cardiomyopathy 1 |
germline
|
Detail |
|
Pathogenic
|
2023-06-26 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
maternal
unknown
|
Detail |
|
Pathogenic
|
2020-09-09 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy 4 |
germline
|
Detail |
|
Pathogenic
|
2023-05-04 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2021-11-06 | criteria provided, single submitter | Left ventricular noncompaction 10,hypertrophic cardiomyopathy 4 |
unknown
|
Detail |
|
Pathogenic
|
2021-11-06 | criteria provided, single submitter | Left ventricular noncompaction 10,hypertrophic cardiomyopathy 4 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | NA | CLINVAR | Detail | |
| 0.440 | Cardiomyopathy, Familial Hypertrophic, 4 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) AND not provided | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) AND Hypertrophic cardiomyopathy 4 | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) AND Cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) AND multiple conditions | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) AND multiple conditions | 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
- rs397515992 dbSNP
- Genome
- hg38
- Position
- chr11:47,335,042-47,335,042
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser