chr1:201361989:G>A Detail (hg38) (TNNT2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:201,331,117-201,331,117 View the variant detail on this assembly version. |
hg38 | chr1:201,361,989-201,361,989 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001001430.2:c.613C>T | NP_001001430.1:p.Arg205Trp |
NM_001276346.1:c.514C>T | NP_001263275.1:p.Arg172Trp | |
NM_001001431.2:c.601C>T | NP_001001431.1:p.Arg201Trp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
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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2014-04-29 | no assertion criteria provided | Primary dilated cardiomyopathy |
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Detail |
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2022-12-29 | criteria provided, single submitter | not provided |
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2024-02-07 | criteria provided, single submitter |
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Detail | |
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2019-09-16 | criteria provided, single submitter | cardiomyopathy |
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Detail |
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2024-01-15 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2024-01-15 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2024-01-15 | criteria provided, single submitter | hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 |
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Detail |
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2019-01-21 | criteria provided, single submitter | Primary familial dilated cardiomyopathy |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.256 | Cardiomyopathy, Dilated | NA | CLINVAR | Detail | |
0.256 | Cardiomyopathy, Dilated | A c.517T C>T, Arg173Trp TNNT2 variant segregated with all affected family mem... | BeFree | 24205113 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND not provided | ClinVar | Detail |
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND Cardiovascular phenotype | ClinVar | Detail |
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND Cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND Primary familial dilated cardiomyopathy | ClinVar | Detail |
NA | DisGeNET | Detail |
A c.517T C>T, Arg173Trp TNNT2 variant segregated with all affected family members and was also de... | 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 |
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- Gene
- -
- dbSNP
- rs45586240 dbSNP
- Genome
- hg38
- Position
- chr1:201,361,989-201,361,989
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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