chr1:201364365:C>T Detail (hg38) (TNNT2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:201,333,493-201,333,493 View the variant detail on this assembly version. |
hg38 | chr1:201,364,365-201,364,365 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001001430.2:c.392G>A | NP_001001430.1:p.Arg131Gln |
NM_001276346.1:c.302G>A | NP_001263275.1:p.Arg101Gln | |
NM_001001431.2:c.389G>A | NP_001001431.1:p.Arg130Gln |
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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2015-02-02 | criteria provided, single submitter | Primary dilated cardiomyopathy |
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Detail |
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2018-08-10 | criteria provided, single submitter | not provided |
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Detail |
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2023-11-08 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-11-08 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-11-08 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-04-11 | criteria provided, single submitter | 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 |
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2023-12-17 | criteria provided, single submitter | TNNT2-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.440 | CARDIOMYOPATHY, DILATED, 1D (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) AND not provided | ClinVar | Detail |
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) AND Hypertrophic cardiomyopathy 2 | ClinVar | Detail |
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) AND Dilated cardiomyopathy 1D | ClinVar | Detail |
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) AND Cardiomyopathy, familial restrictive, 3 | ClinVar | Detail |
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) AND TNNT2-related disorder | ClinVar | Detail |
NA | DisGeNET | 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
- rs397516464 dbSNP
- Genome
- hg38
- Position
- chr1:201,364,365-201,364,365
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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