chr7:55272951:> Detail (hg19) (EGFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,272,951-55,272,953 |
| hg38 | chr7:55,205,258-55,205,260 |
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,Erlotinib | B |
Predictive
|
Supports
|
Sensitivity/Response |
N/A
|
3 | 22901364 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| While EGFR mutation is a strong predictive factor for EGFR inhibition, some patients with EGFR wild-... | 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
- chr7:55,272,951-55,272,953
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- Y1092 PHOSPHORYLATION
- Transcript 1 (CIViC Variant)
- ENST00000275493.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/390
- Summary (CIViC Variant)
- Although referred to as Y1068 in the literature, based on the recognition peptide described, this tyrosine occurs at Y1039 (ENST00000454757.2 v75) or Y1092 (ENST00000275493.2 v75).
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