chr14:23900635:A>G Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,900,635-23,900,635 |
| hg38 | chr14:23,431,426-23,431,426 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.788T>C | NP_000248.2:p.Ile263Thr |
| Ensemble | ENST00000355349.4:c.788T>C | ENST00000355349.4:p.Ile263Thr |
| ENST00000713768.1:c.788T>C | ENST00000713768.1:p.Ile263Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2017-02-21 | criteria provided, single submitter | Primary familial hypertrophic cardiomyopathy |
germline
|
Detail |
Pathogenic
|
2022-11-14 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
criteria provided, single submitter | hypertrophic cardiomyopathy 1 |
germline
|
Detail | |
|
Pathogenic
|
2016-12-15 | reviewed by expert panel | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-03-08 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2022-06-03 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | NA | CLINVAR | Detail | |
| 0.252 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
| NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) AND Cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) AND Cardiovascular phenotype | 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
- rs397516269 dbSNP
- Genome
- hg19
- Position
- chr14:23,900,635-23,900,635
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser