EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0028259
Disease:
Nodule
0.010 GeneticVariation BEFREE In this case report, we described a 37-year-old woman who underwent refractory after second-line gefitinib therapy and was confirmed to have SCLC transformation without the T790M mutation in the left lobar nodule, but concomitant with the plasma-genotyped EGFR T790M mutation. 28723866 2017