chr14:23900998:C>A Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,900,998-23,900,998 |
| hg38 | chr14:23,431,789-23,431,789 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.611G>T | NP_000248.2:p.Arg204Leu |
| Ensemble | ENST00000713769.1:c.611G>T | ENST00000713769.1:p.Arg204Leu |
| ENST00000355349.4:c.611G>T | ENST00000355349.4:p.Arg204Leu |
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
|
2014-04-17 | criteria provided, single submitter | not specified |
germline
|
Detail |
Likely pathogenic
|
2023-01-20 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2023-12-14 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Likely pathogenic
|
2023-05-10 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2023-07-17 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.163 | Cardiomyopathies | In a small cohort of HCM patients (n=8), we searched for mutations in the two mo... | BeFree | 23816408 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) AND not specified | ClinVar | Detail |
| NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) AND Cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) AND Cardiovascular phenotype | ClinVar | Detail |
| In a small cohort of HCM patients (n=8), we searched for mutations in the two most common genes resp... | 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
- rs397516260 dbSNP
- Genome
- hg19
- Position
- chr14:23,900,998-23,900,998
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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