chr14:23424902:A>G Detail (hg38) (MYH7, LOC126861898)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,894,111-23,894,111 View the variant detail on this assembly version. |
| hg38 | chr14:23,424,902-23,424,902 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.2546T>C | NP_000248.2:p.Met849Thr |
| Ensemble | ENST00000355349.4:c.2546T>C | ENST00000355349.4:p.Met849Thr |
| ENST00000713768.1:c.2546T>C | ENST00000713768.1:p.Met849Thr |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
cardiomyopathy, familial hypertrophic |
germline
|
MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2022-08-16 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Likely pathogenic
|
2018-03-06 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2022-01-05 | criteria provided, single submitter |
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.2546T>C (p.Met849Thr) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2546T>C (p.Met849Thr) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.2546T>C (p.Met849Thr) 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
- rs397516156 dbSNP
- Genome
- hg38
- Position
- chr14:23,424,902-23,424,902
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser