chr14:23415258:C>T Detail (hg38) (MYH7, LOC126861897)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,884,467-23,884,467 View the variant detail on this assembly version. |
| hg38 | chr14:23,415,258-23,415,258 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.5296G>A | NP_000248.2:p.Ala1766Thr |
| Ensemble | ENST00000355349.4:c.5296G>A | ENST00000355349.4:p.Ala1766Thr |
| ENST00000713768.1:c.5296G>A | ENST00000713768.1:p.Ala1766Thr |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2008-06-03 | no assertion criteria provided | Left ventricular noncompaction 5 |
germline
|
Detail |
Uncertain significance
|
2020-08-17 | criteria provided, single submitter | cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2023-07-13 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Left ventricular noncompaction 5 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr) AND Left ventricular noncompaction 5 | ClinVar | Detail |
| NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr) AND Cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr) AND Hypertrophic 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
- rs267606909 dbSNP
- Genome
- hg38
- Position
- chr14:23,415,258-23,415,258
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser