chr7:55242462:CAAGGAATTAAGAGAAGC>AAA Detail (hg19) (EGFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,242,462-55,242,479 |
| hg38 | chr7:55,174,769-55,174,786 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005228.3:c.2232_2249delinsAAA | NP_005219.2:p.Glu746_Ala750del |
| NM_001346897.1:c.2097_2114delinsAAA | NP_001333826.1:p.Glu701_Ala705del | |
| Ensemble | ENST00000275493.7:c.2232_2249delinsAAA | ENST00000275493.7:p.Glu746_Ala750del |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2008-03-01 | no assertion criteria provided | Non-small cell lung carcinoma |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.385 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005228.5(EGFR):c.2232_2249delinsAAA (p.Glu746_Ala750del) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NA | 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
- rs397517094 dbSNP
- Genome
- hg19
- Position
- chr7:55,242,462-55,242,479
- Variant Type
- snv
- Reference Allele
- CAAGGAATTAAGAGAAGC
- Alternative Allele
- AAA
Genome browser