chr14:23427716:A>G Detail (hg38) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,896,925-23,896,925 View the variant detail on this assembly version. |
| hg38 | chr14:23,427,716-23,427,716 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.1757T>C | NP_000248.2:p.Val586Ala |
| Ensemble | ENST00000355349.4:c.1757T>C | ENST00000355349.4:p.Val586Ala |
| ENST00000713768.1:c.1757T>C | ENST00000713768.1:p.Val586Ala |
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
|
2023-02-01 | criteria provided, conflicting interpretations | hypertrophic 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.1757T>C (p.Val586Ala) 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
- rs397516121 dbSNP
- Genome
- hg38
- Position
- chr14:23,427,716-23,427,716
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser