chr7:55249014:>GCGTGGACA Detail (hg19) (EGFR, EGFR-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,249,014-55,249,014 |
| hg38 | chr7:55,181,321-55,181,321 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001346897.1:c.2176_2177insGCGTGGACA | NP_001333826.1:p.Ser723_Asp725dup |
| NM_005228.3:c.2311_2312insGCGTGGACA | NP_005219.2:p.Ser768_Asp770dup | |
| Ensemble | ENST00000455089.5:c.2176_2177insGCGTGGACA | ENST00000455089.5:p.Ser723_Asp725dup |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 18 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
drug response
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2006-10-28 | no assertion criteria provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
drug response
|
2012-06-01 | criteria provided, single submitter |
somatic
|
Detail | |
|
Likely pathogenic
|
no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung non-small cell carcinoma | Erlotinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 24353160 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In an in vitro study, a Ba/F3 cell line expressing EGFR D770_N771insSVD demonstrated reduced sensiti... | CIViC Evidence | Detail |
| NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) AND Tyrosine kinase inhibitor response | ClinVar | Detail |
| NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) AND Lung adenocarcinoma | 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
- rs397517109 dbSNP
- Genome
- hg19
- Position
- chr7:55,249,014-55,249,014
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- GCGTGGACA
- Variant (CIViC) (CIViC Variant)
- D770_N771insSVD
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1445
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