chr14:23425813:C>T Detail (hg38) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,895,022-23,895,022 View the variant detail on this assembly version. |
| hg38 | chr14:23,425,813-23,425,813 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.2168G>A | NP_000248.2:p.Arg723His |
| Ensemble | ENST00000355349.4:c.2168G>A | ENST00000355349.4:p.Arg723His |
| ENST00000713768.1:c.2168G>A | ENST00000713768.1:p.Arg723His |
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 |
|---|---|---|---|---|---|
Uncertain significance
|
2014-04-04 | criteria provided, single submitter | not specified |
germline
|
Detail |
Pathogenic
|
no assertion criteria provided | Familial cardiomyopathy |
not provided
|
Detail | |
Likely pathogenic
|
2022-11-29 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2021-12-21 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Uncertain significance
|
2017-04-27 | criteria provided, single submitter | dilated cardiomyopathy 1S |
germline
|
Detail |
|
Uncertain significance
|
2017-04-27 | criteria provided, single submitter | MYH7-related skeletal myopathy |
germline
|
Detail |
|
Uncertain significance
|
2021-11-15 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2017-04-27 | criteria provided, single submitter | Myosin storage myopathy |
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.2168G>A (p.Arg723His) AND not specified | ClinVar | Detail |
| NM_000257.4(MYH7):c.2168G>A (p.Arg723His) AND Familial cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2168G>A (p.Arg723His) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2168G>A (p.Arg723His) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.2168G>A (p.Arg723His) AND Dilated cardiomyopathy 1S | ClinVar | Detail |
| NM_000257.4(MYH7):c.2168G>A (p.Arg723His) AND MYH7-related skeletal myopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2168G>A (p.Arg723His) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_000257.4(MYH7):c.2168G>A (p.Arg723His) AND Myosin storage myopathy | 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
- rs397516135 dbSNP
- Genome
- hg38
- Position
- chr14:23,425,813-23,425,813
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser