chr14:23426834:G>A Detail (hg38) (MYH7)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:23,896,043-23,896,043 View the variant detail on this assembly version. |
hg38 | chr14:23,426,834-23,426,834 |
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 |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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cardiomyopathy, familial hypertrophic |
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MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University | ||||
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cardiomyopathy, familial hypertrophic |
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MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-07-03 | criteria provided, single submitter | Primary familial hypertrophic cardiomyopathy |
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Detail |
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2023-10-12 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-01-29 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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2021-03-09 | criteria provided, single submitter |
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Detail | |
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2023-03-15 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
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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
- hg38
- Position
- chr14:23,426,834-23,426,834
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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