chr12:11244303:T>C Detail (hg19) (TAS2R43)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:11,244,303-11,244,303 |
| hg38 | chr12:11,091,704-11,091,704 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_176884.2:c.526A>G | NP_795365.2:p.Asn176Asp |
| Ensemble | ENST00000531678.1:c.526A>G | ENST00000531678.1:p.Asn176Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.088 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.013 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.011 | hypertrophic cardiomyopathy | In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic ... | BeFree | 24888384 | Detail |
| 0.005 | Cardiomyopathies | The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all... | BeFree | 22462493 | Detail |
| 0.034 | hypertrophic cardiomyopathy | In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic ... | BeFree | 24888384 | Detail |
| 0.127 | Cardiomyopathies | The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all... | BeFree | 22462493 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM)... | DisGeNET | Detail |
| The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Fi... | DisGeNET | Detail |
| In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM)... | DisGeNET | Detail |
| The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Fi... | 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
- -
- Genome
- hg19
- Position
- chr12:11,244,303-11,244,303
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- VQSRTrancheSNP99.00to99.90
- # of samples (HGVD)
- 1166
- Mean of sample read depth (HGVD)
- 126.34
- Standard deviation of sample read depth (HGVD)
- 71.13
- Number of reference allele (HGVD)
- 2126
- Number of alternative allele (HGVD)
- 206
- Allele Frequency (HGVD)
- 0.08833619210977701
- Gene Symbol (HGVD)
- TAS2R43
- East Asian Chromosome Counts (ExAC)
- 8064
- East Asian Allele Counts (ExAC)
- 101
- East Asian Heterozygous Counts (ExAC)
- 97
- East Asian Homozygous Counts (ExAC)
- 2
- East Asian Allele Frequency (ExAC)
- 0.012524801587301588
- Chromosome Counts in All Race (ExAC)
- 94582
- Allele Counts in All Race (ExAC)
- 3695
- Heterozygous Counts in All Race (ExAC)
- 3359
- Homozygous Counts in All Race (ExAC)
- 168
- Allele Frequency in All Race (ExAC)
- 0.0390666300141676
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