chr1:201359220:C>T Detail (hg38) (TNNT2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:201,328,348-201,328,348 View the variant detail on this assembly version. |
hg38 | chr1:201,359,220-201,359,220 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001001430.2:c.857G>A | NP_001001430.1:p.Arg286His |
NM_001276346.1:c.758G>A | NP_001263275.1:p.Arg253His | |
NM_001001431.2:c.845G>A | NP_001001431.1:p.Arg282His |
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 |
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Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2018-07-16 | criteria provided, single submitter | not specified |
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Detail |
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2014-06-01 | no assertion criteria provided | Primary familial hypertrophic cardiomyopathy |
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Detail |
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2023-10-02 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-03-12 | criteria provided, single submitter |
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Detail | |
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2024-01-26 | 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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2024-01-26 | 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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2024-01-26 | 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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2023-10-30 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
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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 |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
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.887G>A (p.Arg296His) AND not specified | ClinVar | Detail |
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) AND not provided | ClinVar | Detail |
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) AND Cardiovascular phenotype | ClinVar | Detail |
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) AND multiple conditions | ClinVar | Detail |
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) AND Cardiomyopathy | ClinVar | Detail |
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) AND Hypertrophic cardiomyopathy 2 | ClinVar | Detail |
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) AND Dilated cardiomyopathy 1D | ClinVar | Detail |
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) AND Cardiomyopathy, familial restrictive, 3 | ClinVar | 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
- rs141121678 dbSNP
- Genome
- hg38
- Position
- chr1:201,359,220-201,359,220
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 6392
- East Asian Allele Counts (ExAC)
- 6
- East Asian Heterozygous Counts (ExAC)
- 6
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 9.386733416770963E-4
- Chromosome Counts in All Race (ExAC)
- 88810
- Allele Counts in All Race (ExAC)
- 7
- Heterozygous Counts in All Race (ExAC)
- 7
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 7.881995270802837E-5
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