rs121434568

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs121434568(G;G)

Make rs121434568(G;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

55191822

Gene

EGFR

is a	snp
is	mentioned by
dbSNP	rs121434568
dbSNP (classic)	rs121434568
ClinGen	rs121434568
ebi	rs121434568
HLI	rs121434568
Exac	rs121434568
Gnomad	rs121434568
Varsome	rs121434568
LitVar	rs121434568
Map	rs121434568
PheGenI	rs121434568
Biobank	rs121434568
1000 genomes	rs121434568
hgdp	rs121434568
ensembl	rs121434568
geneview	rs121434568
scholar	rs121434568
google	rs121434568
pharmgkb	rs121434568
gwascentral	rs121434568
openSNP	rs121434568
23andMe	rs121434568
SNPshot	rs121434568
SNPdbe	rs121434568
MSV3d	rs121434568
GWAS Ctlg	rs121434568

Max Magnitude

0

aka c.2573T>A, p.Leu858Gln or L858Q, and also c.2573T>G, p.Leu858Arg or L858R

The L858Q variant (in the EGFR gene) is reported in ClinVar as a germline variant considered likely pathogenic in association with non-small cell lung cancer.

The L858R variant is reported in ClinVar primarily as a somatic (not germline) variant, observed in tumors and reported to be predictive of response to various chemotherapeutics used to treat non-small cell lung cancer.

OMIM	131550
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434568(A;A) rs121434568(G;G)
Alt	rs121434568(A;A) rs121434568(G;G)
Reference	Rs121434568(T;T)
Significance	Drug-response
Disease	Non-small cell lung cancer Nonsmall cell lung cancer Adenocarcinoma of lung Tyrosine kinase inhibitor response carboplatin gefitinib response - Efficacy erlotinib response - Efficacy Adenocarcinoma of lung
Variation	info
Gene	EGFR
CLNDBN	Non-small cell lung cancer Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic Tyrosine kinase inhibitor response carboplatin, docetaxel, erlotinib, gemcitabine, and paclitaxel response - Efficacy gefitinib response - Efficacy erlotinib response - Efficacy Adenocarcinoma of lung
Reversed	0
HGVS	NC_000007.13:g.55259515T>A; NC_000007.13:g.55259515T>G
CLNSRC	OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC	RCV000419082.1, RCV000018083.87, RCV000018084.61, RCV000150629.1, RCV000211235.1, RCV000211323.1, RCV000211410.1, RCV000418019.1, RCV000435684.1,