chr7:55019017:> Detail (hg38) (EGFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,086,710-55,279,321 |
| hg38 | chr7:55,019,017-55,211,628 |
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
|
Somatic | 4 | 19692680 | Detail | |
| lung adenocarcinoma | Gefitinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 15329413 | Detail |
| lung non-small cell carcinoma | Erlotinib | C |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 2 | 21531810 | Detail |
| lung non-small cell carcinoma | Gefitinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 21531810 | Detail |
| lung non-small cell carcinoma | Erlotinib | C |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 2 | 21531810 | Detail |
| lung non-small cell carcinoma | Gefitinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 21531810 | Detail |
| lung non-small cell carcinoma | Gefitinib | C |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 2 | 21531810 | Detail |
| lung non-small cell carcinoma | Erlotinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 24353160 | Detail | |
| lung non-small cell carcinoma | Erlotinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 19147750 | Detail | |
| lung adenocarcinoma | Erlotinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 15329413 | Detail |
| lung non-small cell carcinoma | Erlotinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 24353160 | Detail | |
| lung non-small cell carcinoma | Erlotinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 24353160 | Detail | |
| lung non-small cell carcinoma | Gefitinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 15118073 | Detail |
| lung adenocarcinoma | Gefitinib | C |
Predictive
|
Does Not Support
|
Reduced Sensitivity | Somatic | 2 | 27022112 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a phase 3 clinical trial of East Asian pulmonary adenocarcinoma patients, a subset of patients wi... | CIViC Evidence | Detail |
| Mutational profiling was performed on EGFR exons 18-24 from a group of 10 retrospectively chosen lun... | CIViC Evidence | Detail |
| In a study, 2 participants with stage IV adenocarcinoma were sequenced at EGFR exons 18 to 21. Both... | CIViC Evidence | Detail |
| In a study, 1 participant with stage IV adenocarcinoma was sequenced at EGFR exons 18 to 21 and was ... | CIViC Evidence | Detail |
| In a study, 1 participant with stage IV squamous cell lung carcinoma was sequenced at EGFR exons 18 ... | 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 |
| In a study, 1 participant with stage IIIB lung adenocarcinoma was sequenced at EGFR exons 18 to 21 a... | CIViC Evidence | Detail |
| In an in vitro study, a Ba/F3 cell line expressing EGFR H773_V774insH demonstrated reduced sensitivi... | CIViC Evidence | Detail |
| In an in vitro study, a Ba/F3 cell line expressing EGFR L838V demonstrated reduced sensitivity to er... | CIViC Evidence | Detail |
| EGFR exons 18-24 were analyzed in 7 patients who had shown a partial response to erlotinib in a phas... | CIViC Evidence | Detail |
| In an in vitro study, a Ba/F3 cell line expressing EGFR M766_A767insAI demonstrated reduced sensitiv... | CIViC Evidence | Detail |
| In an in vitro study, a Ba/F3 cell line expressing EGFR Y764_V765insHH demonstrated reduced sensitiv... | CIViC Evidence | Detail |
| Study found somatic EGFR mutations localized to exons 19,21 in 8/9 patients who exhibited a response... | CIViC Evidence | Detail |
| A Japanese Phase III clinical study assessed the noninferiority of gefitinib as compared to erlotini... | 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
- hg38
- Position
- chr7:55,019,017-55,211,628
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- E746_T751>I
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1003
- Variant (CIViC) (CIViC Variant)
- G810S
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1016
- Variant (CIViC) (CIViC Variant)
- L838V
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1018
- Variant (CIViC) (CIViC Variant)
- E709Q
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1413
- Variant (CIViC) (CIViC Variant)
- E746_S752>A
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1433
- Variant (CIViC) (CIViC Variant)
- H773_V774insH
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1446
- Variant (CIViC) (CIViC Variant)
- L838P
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1457
- Variant (CIViC) (CIViC Variant)
- T847I
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1463
- Variant (CIViC) (CIViC Variant)
- S768_D770dup
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1511
- Variant (CIViC) (CIViC Variant)
- E709_T710>D
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1577
- Variant (CIViC) (CIViC Variant)
- L747_S752insQ
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1580
- Variant (CIViC) (CIViC Variant)
- N771>GY
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1581
- Variant (CIViC) (CIViC Variant)
- E746_A750>IP
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1635
- Variant (CIViC) (CIViC Variant)
- K745_E749delKELRE
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1638
- Variant (CIViC) (CIViC Variant)
- N771DELinsVH
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1662
- Variant (CIViC) (CIViC Variant)
- M766_A767insAI
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1664
- Variant (CIViC) (CIViC Variant)
- Y764_V765insHH
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1665
- Variant (CIViC) (CIViC Variant)
- Gain-of-function
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1765
- Variant (CIViC) (CIViC Variant)
- L747P
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1891
- Variant (CIViC) (CIViC Variant)
- V774A
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1892
- Variant (CIViC) (CIViC Variant)
- V774M
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1894
- Variant (CIViC) (CIViC Variant)
- WILDTYPE
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2174
- Variant (CIViC) (CIViC Variant)
- M766_A767insASV
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2213
- Variant (CIViC) (CIViC Variant)
- delD770insGY
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2214
- Variant (CIViC) (CIViC Variant)
- delL747_P753insS
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2215
- Variant (CIViC) (CIViC Variant)
- delE746_A750
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2216
- Variant (CIViC) (CIViC Variant)
- P772_H773insH
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2217
- Variant (CIViC) (CIViC Variant)
- A702S
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2255
- Variant (CIViC) (CIViC Variant)
- E709K and G719A
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2256
- Variant (CIViC) (CIViC Variant)
- Exon 18 deletion
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2257
- Variant (CIViC) (CIViC Variant)
- E 709A and G719C
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2258
- Variant (CIViC) (CIViC Variant)
- I744_K745insKIPVAI
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2259
- Variant (CIViC) (CIViC Variant)
- RARE EGRF MUT
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2334
- Variant (CIViC) (CIViC Variant)
- L718V and L718Q
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2997
Genome browser