chr14:23897796:C>A Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,897,796-23,897,796 |
| hg38 | chr14:23,428,587-23,428,587 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.1491G>T | NP_000248.2:p.Glu497Asp |
| Ensemble | ENST00000713769.1:c.1491G>T | ENST00000713769.1:p.Glu497Asp |
| ENST00000713768.1:c.1491G>T | ENST00000713768.1:p.Glu497Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2005-11-01 | no assertion criteria provided | hypertrophic cardiomyopathy 1 |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-01-24 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Likely pathogenic
|
2022-08-25 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-05-03 | criteria provided, single submitter |
germline
|
Detail | |
|
Likely pathogenic
|
2023-11-13 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
germline
|
Detail |
|
Likely pathogenic
|
2022-01-01 | criteria provided, single submitter | dilated cardiomyopathy 1S |
paternal
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | NA | CLINVAR | Detail | |
| 0.252 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
| NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) AND Cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) AND Dilated cardiomyopathy 1S | 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
- rs267606911 dbSNP
- Genome
- hg19
- Position
- chr14:23,897,796-23,897,796
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser