| Geno
|
Mag
|
Summary
|
| (G;G)
|
0
|
common in clinvar
|
NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP
| OMIM | 131550 |
| Desc | NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN, SOMATIC |
| Variant | 0004 |
| Related | also |
| ClinVar
|
| Risk
|
rs28929495(A;A) rs28929495(C;C) rs28929495(T;T) |
| Alt
|
rs28929495(A;A) rs28929495(C;C) rs28929495(T;T) |
| Reference
|
Rs28929495(G;G) |
| Significance |
Drug-response |
| Disease |
Nonsmall cell lung cancer Tyrosine kinase inhibitor response Non-small cell lung cancer Colorectal Neoplasms Squamous cell carcinoma of the head and neck Glioblastoma Adenocarcinoma of lung |
| Variation | info |
|---|
| Gene |
EGFR |
| CLNDBN |
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic Tyrosine kinase inhibitor response Non-small cell lung cancer Colorectal Neoplasms Squamous cell carcinoma of the head and neck Glioblastoma Adenocarcinoma of lung |
| Reversed |
0 |
| HGVS |
NC_000007.13:g.55241707G>A; NC_000007.13:g.55241707G>C; NC_000007.13:g.55241707G>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000018087.85, RCV000154198.1, RCV000423860.1, RCV000434135.1, RCV000038379.2, RCV000114405.1, RCV000018086.85, RCV000038380.3, RCV000426731.1, RCV000433465.1, |
[PMID 17956637
] Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study.
] Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study.
