chr1:3682336:G>T Detail (hg38) (TP73)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:3,598,900-3,598,900 View the variant detail on this assembly version. |
| hg38 | chr1:3,682,336-3,682,336 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001204184.1:c.-30G>T | |
| NM_001204185.1:c.-30G>T | ||
| NM_005427.3:c.-30G>T |
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 | |
| 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 |
|---|---|---|---|---|---|
| 0.002 | Non-small cell lung carcinoma | This study investigated whether the functional polymorphisms in P53 pathway gene... | BeFree | 21841506 | Detail |
| 0.219 | Non-small cell lung carcinoma | This study investigated whether the functional polymorphisms in P53 pathway gene... | BeFree | 21841506 | Detail |
| 0.023 | Malignant neoplasm of lung | [When numeric scores were assigned to both the SNP and demographic data, and seq... | GAD | 19789190 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This study investigated whether the functional polymorphisms in P53 pathway genes, P53 Arg72Pro (rs1... | DisGeNET | Detail |
| This study investigated whether the functional polymorphisms in P53 pathway genes, P53 Arg72Pro (rs1... | DisGeNET | Detail |
| [When numeric scores were assigned to both the SNP and demographic data, and sequentially combined b... | 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
- hg38
- Position
- chr1:3,682,336-3,682,336
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 1578
- 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)
- 20754
- Allele Counts in All Race (ExAC)
- 11
- Heterozygous Counts in All Race (ExAC)
- 9
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.300183097234269E-4
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