chr14:23427657:C>T Detail (hg38) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,896,866-23,896,866 View the variant detail on this assembly version. |
| hg38 | chr14:23,427,657-23,427,657 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.1816G>A | NP_000248.2:p.Val606Met |
| Ensemble | ENST00000355349.4:c.1816G>A | ENST00000355349.4:p.Val606Met |
| ENST00000713768.1:c.1816G>A | ENST00000713768.1:p.Val606Met |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
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 |
|---|---|---|---|---|---|
|
Pathogenic
|
2022-04-27 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2001-06-01 | no assertion criteria provided | hypertrophic cardiomyopathy 1 |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-06-01 | criteria provided, multiple submitters, no conflicts | Primary familial hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2023-05-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-10-24 | criteria provided, multiple submitters, no conflicts |
germline
|
Detail | |
|
Pathogenic
|
2024-01-26 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2021-01-05 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2022-04-27 | criteria provided, single submitter | dilated cardiomyopathy 1S |
unknown
|
Detail |
|
Pathogenic
|
2022-04-27 | criteria provided, single submitter | MYH7-related skeletal myopathy |
unknown
|
Detail |
|
Pathogenic
|
2022-04-27 | criteria provided, single submitter | Myopathy, myosin storage, autosomal recessive |
unknown
|
Detail |
|
Pathogenic
|
2022-04-27 | criteria provided, single submitter | Myosin storage myopathy |
unknown
|
Detail |
not provided
|
no assertion provided | MYH7-related disorder |
unknown
|
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 | |
| 0.022 | hypertrophic cardiomyopathy | In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663... | BeFree | 24566549 | Detail |
| 0.054 | hypertrophic cardiomyopathy | In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663... | BeFree | 24566549 | Detail |
| 0.054 | hypertrophic cardiomyopathy | Here, we describe a unique combination of hypertrophic cardiomyopathy and hypert... | BeFree | 17383184 | Detail |
| 0.054 | hypertrophic cardiomyopathy | Genotype-phenotype correlative studies have implicated 8 particular mutations th... | BeFree | 12473556 | Detail |
| 0.156 | hypertrophic cardiomyopathy | Genotype-phenotype correlative studies have implicated 8 particular mutations th... | BeFree | 12473556 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
| NM_000257.3(MYH7):c.[1816G>A;2183C>T] AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND Cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND Dilated cardiomyopathy 1S | ClinVar | Detail |
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND MYH7-related skeletal myopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND Myopathy, myosin storage, autosomal recessive | ClinVar | Detail |
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND Myosin storage myopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1816G>A (p.Val606Met) AND MYH7-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-... | DisGeNET | Detail |
| In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-... | DisGeNET | Detail |
| Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopat... | DisGeNET | Detail |
| Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi... | DisGeNET | Detail |
| Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi... | 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
- rs121913627 dbSNP
- Genome
- hg38
- Position
- chr14:23,427,657-23,427,657
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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