chr11:9599943:A>G Detail (hg19) (WEE1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:9,599,943-9,599,943 |
| hg38 | chr11:9,578,396-9,578,396 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003390.3:c.1141+1133A>G | |
| NM_001143976.1:c.499+1133A>G | ||
| Ensemble | ENST00000450114.7:c.1141+1133A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.654 | |
| 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
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung non-small cell carcinoma | Gemcitabine,Platinum Compound | B |
Predictive
|
Supports
|
Sensitivity/Response | Common Germline | 3 | 26057002 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The presence of the WEE1 polymorphism rs3910384 correlated with OS and PFS of NSCLC patients treated... | CIViC Evidence | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3910384 dbSNP
- Genome
- hg19
- Position
- chr11:9,599,943-9,599,943
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs3910384
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6543
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10964
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- Variant (CIViC) (CIViC Variant)
- RS3910384
- Transcript 1 (CIViC Variant)
- ENST00000450114.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/331
Genome browser