chr7:55248991:> Detail (hg19) (EGFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,248,991-55,249,022 |
| hg38 | chr7:55,181,298-55,181,329 |
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 adenocarcinoma | Afatinib | B |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 26051236 | Detail |
| lung adenocarcinoma | Erlotinib | C |
Predictive
|
Supports
|
Resistance | Somatic | 22895145 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In retrospective analysis of trials, afatinib conferred limited clinical benefit to patients with EG... | CIViC Evidence | Detail |
| In stage IV lung adenocarcinoma patients (n=2) harboring EGFR inframe exon 20 insertion mutation, EG... | 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
- chr7:55,248,991-55,249,022
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- EXON 20 INSERTION
- Transcript 1 (CIViC Variant)
- ENST00000275493.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/726
Genome browser