chr11:47347480:C>A Detail (hg38) (MYBPC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,369,031-47,369,031 View the variant detail on this assembly version. |
| hg38 | chr11:47,347,480-47,347,480 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000256.3:c.852-1G>T | |
| Ensemble | ENST00000399249.6:c.852-1G>T | |
| ENST00000545968.6:c.852-1G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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 |
|---|---|---|---|---|---|
Likely pathogenic
|
2014-06-01 | no assertion criteria provided | Primary familial hypertrophic cardiomyopathy |
germline
|
Detail |
Uncertain significance
|
2023-05-05 | criteria provided, single submitter | cardiomyopathy |
germline
|
Detail |
|
Uncertain significance
|
2019-07-26 | criteria provided, single submitter | not specified |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-01-11 | criteria provided, conflicting interpretations | hypertrophic cardiomyopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.247 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000256.3(MYBPC3):c.852-1G>T AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.852-1G>T AND Cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.852-1G>T AND not specified | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.852-1G>T AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs368121566 dbSNP
- Genome
- hg38
- Position
- chr11:47,347,480-47,347,480
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 3118
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 49084
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.037323771493766E-5
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