chr1:201363330:G>A Detail (hg38) (TNNT2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:201,332,458-201,332,458 View the variant detail on this assembly version. |
hg38 | chr1:201,363,330-201,363,330 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001001430.2:c.536C>T | NP_001001430.1:p.Ser179Phe |
NM_001276346.1:c.446C>T | NP_001263275.1:p.Ser149Phe | |
NM_001001431.2:c.533C>T | NP_001001431.1:p.Ser178Phe |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2010-07-26 | criteria provided, single submitter | hypertrophic cardiomyopathy |
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Detail |
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2023-07-24 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-07-24 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-07-24 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-04-26 | criteria provided, single submitter |
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Detail | |
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2023-04-11 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy 2 |
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Detail |
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2023-04-11 | criteria provided, single submitter | dilated cardiomyopathy 1D |
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Detail |
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2023-04-11 | criteria provided, single submitter | Cardiomyopathy, familial restrictive, 3 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.440 | Cardiomyopathy, Familial Hypertrophic, 2 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) AND Cardiovascular phenotype | ClinVar | Detail |
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) AND Hypertrophic cardiomyopathy 2 | ClinVar | Detail |
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) AND Dilated cardiomyopathy 1D | ClinVar | Detail |
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) AND Cardiomyopathy, familial restrictive, 3 | 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
- rs727504246 dbSNP
- Genome
- hg38
- Position
- chr1:201,363,330-201,363,330
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser