chr14:23896043:G>A Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,896,043-23,896,043 |
| hg38 | chr14:23,426,834-23,426,834 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.1987C>T | NP_000248.2:p.Arg663Cys |
| Ensemble | ENST00000355349.4:c.1987C>T | ENST00000355349.4:p.Arg663Cys |
| ENST00000713768.1:c.1987C>T | ENST00000713768.1:p.Arg663Cys |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| 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
(TMGS000154) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
cardiomyopathy, familial hypertrophic |
germline
|
MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2019-07-03 | criteria provided, single submitter | Primary familial hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2023-10-12 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2021-07-01 | criteria provided, single submitter | hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-07-01 | criteria provided, single submitter | hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-07-01 | criteria provided, single submitter | hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-07-01 | criteria provided, single submitter | hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-07-01 | criteria provided, single submitter | hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-07-01 | criteria provided, single submitter | hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-03-09 | criteria provided, single submitter |
germline
|
Detail | |
|
Pathogenic
Likely pathogenic
|
2023-03-15 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
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.1987C>T (p.Arg663Cys) AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND multiple conditions | ClinVar | Detail |
| NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND Cardiomyopathy | 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
- rs397516127 dbSNP
- Genome
- hg19
- Position
- chr14:23,896,043-23,896,043
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser