chr7:55181318:>CCAGCGTGG Detail (hg38) (EGFR, EGFR-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,249,011-55,249,011 |
| hg38 | chr7:55,181,318-55,181,318 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005228.3:c.2308_2309insCCAGCGTGG | NP_005219.2:p.Ala767_Val769dup |
| NM_001346897.1:c.2173_2174insCCAGCGTGG | NP_001333826.1:p.Ala722_Val724dup | |
| Ensemble | ENST00000275493.7:c.2308_2309insCCAGCGTGG | ENST00000275493.7:p.Ala767_Val769dup |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
drug response
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
drug response
|
2010-02-24 | no assertion criteria provided |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung adenocarcinoma | Erlotinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 26773740 | Detail |
| lung adenocarcinoma | Erlotinib | C |
Predictive
|
Supports
|
Resistance | Somatic | 24353160 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Although EGFR exon 20 insertions may confer reduced sensitivity to erlotinib, patients with this par... | CIViC Evidence | Detail |
| In a study of 19 non-small cell lung carcinoma patients with EGFR exon 20 insertion mutations and tr... | CIViC Evidence | Detail |
| NM_005228.5(EGFR):c.2300_2308dup (p.Ala767_Val769dup) AND Tyrosine kinase inhibitor response | ClinVar | 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
- -
- dbSNP
- rs727504263 dbSNP
- Genome
- hg38
- Position
- chr7:55,181,318-55,181,318
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- CCAGCGTGG
- Variant (CIViC) (CIViC Variant)
- V769_770insASV
- Transcript 1 (CIViC Variant)
- ENST00000275493.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/736
- Variant (CIViC) (CIViC Variant)
- A767_V769dupASV
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1579
Genome browser