chr3:179157086:C>T Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,874,874-178,874,874 View the variant detail on this assembly version. |
| hg38 | chr3:179,157,086-179,157,086 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.-77+8483C>T | |
| Ensemble | ENST00000263967.4:c.-77+8483C>T | |
| ENST00000643187.1:c.-77+8483C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.068 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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 |
|---|---|---|---|---|---|
| 0.004 | Squamous cell carcinoma of esophagus | EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlati... | BeFree | 24945674 | Detail |
| 0.128 | Squamous cell carcinoma of esophagus | EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlati... | BeFree | 24945674 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanc... | DisGeNET | Detail |
| EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanc... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7621329 dbSNP
- Genome
- hg38
- Position
- chr3:179,157,086-179,157,086
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs7621329
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0677
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1134
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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