chr14:23899016:C>G Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,899,016-23,899,016 |
| hg38 | chr14:23,429,807-23,429,807 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.1106G>C | NP_000248.2:p.Arg369Pro |
| Ensemble | ENST00000713769.1:c.1106G>C | ENST00000713769.1:p.Arg369Pro |
| ENST00000355349.4:c.1106G>C | ENST00000355349.4:p.Arg369Pro |
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
|
2014-01-06 | criteria provided, single submitter | not specified |
germline
|
Detail |
Likely pathogenic
|
2014-10-28 | no assertion criteria provided | cardiomyopathy |
germline
|
Detail |
Pathogenic
|
2022-10-31 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | CARDIOMYOPATHY, DILATED, 1S | NA | CLINVAR | Detail | |
| 0.163 | Cardiomyopathies | NA | CLINVAR | Detail | |
| 0.003 | Heart failure | A second pediatric patient presented with heart failure and was found to carry a... | BeFree | 20031619 | Detail |
| <0.001 | congestive heart failure | A second pediatric patient presented with heart failure and was found to carry a... | BeFree | 20031619 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) AND not specified | ClinVar | Detail |
| NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) AND Cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A second pediatric patient presented with heart failure and was found to carry a de novo MYH7 R369Q ... | DisGeNET | Detail |
| A second pediatric patient presented with heart failure and was found to carry a de novo MYH7 R369Q ... | 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
- rs397516089 dbSNP
- Genome
- hg19
- Position
- chr14:23,899,016-23,899,016
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser