chr7:55181314:G>C Detail (hg38) (EGFR, EGFR-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,249,007-55,249,007 View the variant detail on this assembly version. |
| hg38 | chr7:55,181,314-55,181,314 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005228.3:c.2305G>C | NP_005219.2:p.Val769Leu |
| NM_001346897.1:c.2170G>C | NP_001333826.1:p.Val724Leu | |
| Ensemble | ENST00000275493.7:c.2305G>C | ENST00000275493.7:p.Val769Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2008-02-25 | no assertion criteria provided | not specified |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.200 | Adenocarcinoma of lung (disorder) | Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rar... | BeFree | 17045698 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005228.5(EGFR):c.2305G>C (p.Val769Leu) AND not specified | ClinVar | Detail |
| Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rare EGFR mutations S76... | DisGeNET | 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
- rs147149347 dbSNP
- Genome
- hg38
- Position
- chr7:55,181,314-55,181,314
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser