chr14:23884965:C>T Detail (hg19) (MYH7, MHRT, LOC126861897)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:23,884,965-23,884,965 |
hg38 | chr14:23,415,756-23,415,756 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000257.3:c.5030G>A | NP_000248.2:p.Arg1677His |
Ensemble | ENST00000713768.1:c.5030G>A | ENST00000713768.1:p.Arg1677His |
ENST00000355349.4:c.5030G>A | ENST00000355349.4:p.Arg1677His |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-08-12 | criteria provided, single submitter | not provided |
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Detail |
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2023-09-03 | criteria provided, single submitter | hypertrophic cardiomyopathy |
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Detail |
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2023-05-31 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
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Detail |
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criteria provided, single submitter | Primary dilated cardiomyopathy |
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Detail | |
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2021-11-29 | criteria provided, single submitter |
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Detail | |
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2021-11-09 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,dilated cardiomyopathy 1S |
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Detail |
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2021-11-09 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,dilated cardiomyopathy 1S |
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Detail |
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2021-11-09 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,dilated cardiomyopathy 1S |
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Detail |
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2021-11-09 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,dilated cardiomyopathy 1S |
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Detail |
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2021-11-09 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,dilated cardiomyopathy 1S |
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Detail |
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2021-11-09 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,dilated cardiomyopathy 1S |
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Detail |
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2022-12-04 | criteria provided, single submitter | MYH7-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND not provided | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND Cardiomyopathy | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND Cardiovascular phenotype | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND multiple conditions | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND multiple conditions | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND multiple conditions | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND multiple conditions | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND multiple conditions | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND multiple conditions | ClinVar | Detail |
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND MYH7-related disorder | ClinVar | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs730880914 dbSNP
- Genome
- hg19
- Position
- chr14:23,884,965-23,884,965
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- VQSRTrancheSNP99.60to99.80
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs730880914
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121384
- Allele Counts in All Race (ExAC)
- 6
- Heterozygous Counts in All Race (ExAC)
- 6
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.942990838990312E-5
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