chr1:201333464:G>A Detail (hg19) (TNNT2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:201,333,464-201,333,464 |
hg38 | chr1:201,364,336-201,364,336 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001276347.1:c.421C>T | NP_001263276.1:p.Arg141Trp |
NM_001001431.2:c.418C>T | NP_001001431.1:p.Arg140Trp | |
NM_001276346.1:c.331C>T | NP_001263275.1:p.Arg111Trp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-04-11 | criteria provided, multiple submitters, no conflicts | dilated cardiomyopathy 1D |
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Detail |
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2014-08-04 | no assertion criteria provided | Primary dilated cardiomyopathy |
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Detail |
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2023-01-23 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-05-12 | criteria provided, single submitter | Primary dilated cardiomyopathy,hypertrophic cardiomyopathy |
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Detail |
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2015-05-12 | criteria provided, single submitter | Primary dilated cardiomyopathy,hypertrophic cardiomyopathy |
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Detail |
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2023-08-17 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-08-17 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-08-17 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2018-04-20 | criteria provided, single submitter | Familial isolated dilated cardiomyopathy |
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Detail |
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2023-06-23 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
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Detail |
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2021-03-23 | criteria provided, single submitter | TNNT2 -related cardiomyopathies |
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Detail |
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2023-10-30 | 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 | Cardiomyopathy, familial restrictive, 3 |
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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 | |
0.256 | Cardiomyopathy, Dilated | NA | CLINVAR | Detail | |
0.440 | Cardiomyopathy, Familial Hypertrophic, 2 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Dilated cardiomyopathy 1D | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND not provided | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Familial isolated dilated cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND TNNT2 -related cardiomyopathies | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Hypertrophic cardiomyopathy 2 | ClinVar | Detail |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Cardiomyopathy, familial restrictive, 3 | ClinVar | Detail |
NA | DisGeNET | 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
- rs74315379 dbSNP
- Genome
- hg19
- Position
- chr1:201,333,464-201,333,464
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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