chr14:23897714:C>T Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,897,714-23,897,714 |
| hg38 | chr14:23,428,505-23,428,505 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.1573G>A | NP_000248.2:p.Glu525Lys |
| Ensemble | ENST00000713768.1:c.1573G>A | ENST00000713768.1:p.Glu525Lys |
| ENST00000355349.4:c.1573G>A | ENST00000355349.4:p.Glu525Lys |
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
|
no assertion criteria provided | Familial cardiomyopathy |
not provided
|
Detail | |
|
Likely pathogenic
|
2014-06-04 | no assertion criteria provided | Left ventricular noncompaction cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2022-04-07 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2017-11-08 | criteria provided, multiple submitters, no conflicts | dilated cardiomyopathy 1S |
de novo
|
Detail |
|
Likely pathogenic
|
2017-06-21 | no assertion criteria provided | not provided |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2020-12-02 | criteria provided, multiple submitters, no conflicts | Primary dilated cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Myopathy, myosin storage, autosomal recessive,MYH7-related skeletal myopathy,Myosin storage myopathy,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1 |
de novo
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Myopathy, myosin storage, autosomal recessive,MYH7-related skeletal myopathy,Myosin storage myopathy,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1 |
de novo
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Myopathy, myosin storage, autosomal recessive,MYH7-related skeletal myopathy,Myosin storage myopathy,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1 |
de novo
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Myopathy, myosin storage, autosomal recessive,MYH7-related skeletal myopathy,Myosin storage myopathy,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1 |
de novo
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Myopathy, myosin storage, autosomal recessive,MYH7-related skeletal myopathy,Myosin storage myopathy,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1 |
de novo
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | CARDIOMYOPATHY, DILATED, 1S | NA | CLINVAR | Detail | |
| 0.120 | Familial cardiomyopathy | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND Familial cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND Left ventricular noncompaction cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND Dilated cardiomyopathy 1S | ClinVar | Detail |
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND Primary dilated cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) AND multiple conditions | 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
- rs606231324 dbSNP
- Genome
- hg19
- Position
- chr14:23,897,714-23,897,714
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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