chr14:23898538:T>C Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,898,538-23,898,538 |
| hg38 | chr14:23,429,329-23,429,329 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.1157A>G | NP_000248.2:p.Tyr386Cys |
| Ensemble | ENST00000713769.1:c.1157A>G | ENST00000713769.1:p.Tyr386Cys |
| ENST00000355349.4:c.1157A>G | ENST00000355349.4:p.Tyr386Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
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
|
2013-08-23 | criteria provided, single submitter | left ventricular noncompaction,hypertrophic cardiomyopathy,restrictive cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2013-08-23 | criteria provided, single submitter | left ventricular noncompaction,hypertrophic cardiomyopathy,restrictive cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2013-08-23 | criteria provided, single submitter | left ventricular noncompaction,hypertrophic cardiomyopathy,restrictive cardiomyopathy |
germline
|
Detail |
|
Likely pathogenic
|
2017-09-11 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2021-11-30 | reviewed by expert panel | cardiomyopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.252 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) AND Cardiomyopathy | ClinVar | 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
- rs727503269 dbSNP
- Genome
- hg19
- Position
- chr14:23,898,538-23,898,538
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser