chr7:55259523:> Detail (hg19) (EGFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,259,523-55,259,525 |
| hg38 | chr7:55,191,830-55,191,832 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
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 | Gefitinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 21531810 | Detail |
| lung non-small cell carcinoma | Gefitinib,Erlotinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 21531810 | Detail |
| high grade glioma | Erlotinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 17177598 | Detail | |
| lung non-small cell carcinoma | Gefitinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 21531810 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a study, a group of 6 participants, 5 with stage IV and one with stage IIIB lung adenocarcinoma, ... | CIViC Evidence | Detail |
| EGFR L861 mutations have been associated with increased sensitivity to first generation EGFR tyrosin... | CIViC Evidence | Detail |
| In an in vitro study, a Ba/F3 cell line expressing EGFR L861Q demonstrated increased sensitivity to ... | CIViC Evidence | Detail |
| In a study, 1 participant with stage IV lung adenocarcinoma was sequenced at EGFR exons 18 to 21 and... | CIViC Evidence | 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
- chr7:55,259,523-55,259,525
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- L861Q
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1020
- Variant (CIViC) (CIViC Variant)
- L861R
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1477
- Variant (CIViC) (CIViC Variant)
- L861
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1866
Genome browser