chr1:201364369:G>A Detail (hg38) (TNNT2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:201,333,497-201,333,497 View the variant detail on this assembly version. |
hg38 | chr1:201,364,369-201,364,369 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001001430.2:c.388C>T | NP_001001430.1:p.Arg130Cys |
NM_001276346.1:c.298C>T | NP_001263275.1:p.Arg100Cys | |
NM_001001431.2:c.385C>T | NP_001001431.1:p.Arg129Cys |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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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other |
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MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-02-01 | criteria provided, single submitter | hypertrophic cardiomyopathy |
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Detail |
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2022-06-23 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-11-27 | criteria provided, single submitter |
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Detail | |
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2023-12-12 | criteria provided, multiple submitters, no conflicts | dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-12-12 | criteria provided, multiple submitters, no conflicts | dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-12-12 | criteria provided, multiple submitters, no conflicts | dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2023-05-16 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
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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.418C>T (p.Arg140Cys) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND not provided | ClinVar | Detail |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND Cardiovascular phenotype | ClinVar | Detail |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND Cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND Hypertrophic cardiomyopathy 2 | ClinVar | Detail |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND Dilated cardiomyopathy 1D | ClinVar | Detail |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs397516463 dbSNP
- Genome
- hg38
- Position
- chr1:201,364,369-201,364,369
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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