chr14:23895230:A>T Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,895,230-23,895,230 |
| hg38 | chr14:23,426,021-23,426,021 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.2105T>A | NP_000248.2:p.Ile702Asn |
| Ensemble | ENST00000713769.1:c.2105T>A | ENST00000713769.1:p.Ile702Asn |
| ENST00000355349.4:c.2105T>A | ENST00000355349.4:p.Ile702Asn |
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 |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2014-05-23 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2022-09-06 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Likely pathogenic
|
2019-08-12 | criteria provided, single submitter | 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.2105T>A (p.Ile702Asn) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) AND 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
- rs397516132 dbSNP
- Genome
- hg19
- Position
- chr14:23,895,230-23,895,230
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser