chr7:55242467:A>G Detail (hg19) (EGFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,242,467-55,242,467 |
| hg38 | chr7:55,174,774-55,174,774 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001346897.1:c.2102A>G | NP_001333826.1:p.Glu701Gly |
| NM_005228.3:c.2237A>G | NP_005219.2:p.Glu746Gly | |
| Ensemble | ENST00000455089.5:c.2102A>G | ENST00000455089.5:p.Glu701Gly |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | 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
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung adenocarcinoma | Erlotinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 1 | 26773740 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a meta-analysis of 7 clinical trials evaluating the efficacy of erlotinib, one patient was descri... | 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
- chr7:55,242,467-55,242,467
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- E746G
- Transcript 1 (CIViC Variant)
- ENST00000275493.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/724
Genome browser