chr1:201328373:G>A Detail (hg19) (TNNT2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:201,328,373-201,328,373 |
hg38 | chr1:201,359,245-201,359,245 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001276347.1:c.832C>T | NP_001263276.1:p.Arg278Cys |
NM_001001431.2:c.820C>T | NP_001001431.1:p.Arg274Cys | |
NM_001276346.1:c.733C>T | NP_001263275.1:p.Arg245Cys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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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2023-12-15 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy 2 |
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Detail |
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2019-02-19 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2017-07-20 | criteria provided, single submitter | Primary familial hypertrophic cardiomyopathy |
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Detail |
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2013-08-28 | no assertion criteria provided | Costello syndrome |
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Detail |
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2023-06-29 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2014-09-10 | criteria provided, single submitter | hypertrophic cardiomyopathy 1 |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 |
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Detail |
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2024-03-14 | criteria provided, single submitter |
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Detail | |
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2021-10-06 | criteria provided, conflicting interpretations | dilated cardiomyopathy 1D |
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Detail |
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2023-03-27 | criteria provided, conflicting interpretations | hypertrophic cardiomyopathy |
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Detail |
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2023-09-18 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | NA | CLINVAR | Detail | |
0.120 | Costello syndrome (disorder) | NA | CLINVAR | Detail | |
0.156 | hypertrophic cardiomyopathy | We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and i... | BeFree | 20038417 | Detail |
0.256 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail | |
0.440 | Cardiomyopathy, Familial Hypertrophic, 2 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Hypertrophic cardiomyopathy 2 | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND not specified | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Costello syndrome | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND not provided | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Cardiovascular phenotype | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Dilated cardiomyopathy 1D | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Cardiomyopathy | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and identified three muta... | 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
- rs121964857 dbSNP
- Genome
- hg19
- Position
- chr1:201,328,373-201,328,373
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 6754
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 93228
- Allele Counts in All Race (ExAC)
- 40
- Heterozygous Counts in All Race (ExAC)
- 40
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.2905564851761273E-4
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