chr14:23895284:A>G Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,895,284-23,895,284 |
| hg38 | chr14:23,426,075-23,426,075 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.2051T>C | NP_000248.2:p.Met684Thr |
| Ensemble | ENST00000713769.1:c.2051T>C | ENST00000713769.1:p.Met684Thr |
| ENST00000355349.4:c.2051T>C | ENST00000355349.4:p.Met684Thr |
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 |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2022-08-04 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Conflicting interpretations of pathogenicity
|
2023-07-10 | criteria provided, conflicting interpretations | hypertrophic cardiomyopathy |
germline
unknown
|
Detail |
Uncertain significance
|
2023-02-24 | criteria provided, single submitter | cardiomyopathy |
germline
|
Detail |
|
Uncertain significance
|
2024-02-01 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Familial cardiomyopathy | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) AND Cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) AND Cardiovascular phenotype | 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
- rs606231332 dbSNP
- Genome
- hg19
- Position
- chr14:23,895,284-23,895,284
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser