chr14:23883018:C>T Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,883,018-23,883,018 |
| hg38 | chr14:23,413,809-23,413,809 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.5740G>A | NP_000248.2:p.Glu1914Lys |
| Ensemble | ENST00000713769.1:c.5740G>A | ENST00000713769.1:p.Glu1914Lys |
| ENST00000713768.1:c.5740G>A | ENST00000713768.1:p.Glu1914Lys |
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 |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2021-03-22 | reviewed by expert panel | Primary dilated cardiomyopathy |
germline
|
Detail |
Pathogenic
|
2013-01-01 | no assertion criteria provided | dilated cardiomyopathy 1S,MYH7-related skeletal myopathy |
germline
|
Detail |
|
Pathogenic
|
2013-01-01 | no assertion criteria provided | dilated cardiomyopathy 1S,MYH7-related skeletal myopathy |
germline
|
Detail |
not provided
|
no assertion provided | MYH7-related skeletal myopathy |
germline
|
Detail | |
|
Pathogenic
|
2020-02-19 | criteria provided, single submitter | dilated cardiomyopathy 1S |
unknown
|
Detail |
|
Pathogenic
|
2022-10-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-05-03 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Likely pathogenic
|
2022-03-18 | criteria provided, single submitter | cardiomyopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | CARDIOMYOPATHY, DILATED, 1S | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) AND Primary dilated cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) AND MYH7-related skeletal myopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) AND Dilated cardiomyopathy 1S | ClinVar | Detail |
| NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) 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
- rs397516254 dbSNP
- Genome
- hg19
- Position
- chr14:23,883,018-23,883,018
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser