chr7:55241679:AAC> Detail (hg19) (EGFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,241,679-55,241,681 |
| hg38 | chr7:55,173,986-55,173,988 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005228.3:c.2127_2129delAAC | NP_005219.2:p.Glu709_Thr710delinsAsp |
| NM_001346897.1:c.1992_1994delAAC | NP_001333826.1:p.Glu664_Thr665delinsAsp | |
| Ensemble | ENST00000275493.7:c.2127_2129delAAC | ENST00000275493.7:p.Glu709_Thr710delinsAsp |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 10 |
| 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 | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2011-06-15 | criteria provided, single submitter | 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.2127_2129del (p.Glu709_Thr710delinsAsp) 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
- rs397517086 dbSNP
- Genome
- hg19
- Position
- chr7:55,241,679-55,241,681
- Variant Type
- snv
- Reference Allele
- AAC
- Alternative Allele
- -
Genome browser