EGFR G719X

Variant type

missense mutation

Location

Chromosome 7

Exon

8

Protein change

p.G719X

cDNA change

-

Genomic coordinate

Chromosome 7

FATHMM prediction

-

Variant category

I

Variant description

The G719 mutation indicates the substitution of the glycine residue for another, typically serine (S), cysteine (C), or alanine (A). This mutation occurs within exon 18, which encodes part of the kinase domain. G719 comprises 5% of EGFR mutations and has been associated with sensitivity to TKIs (PMID: 20479403).

Variant frequence

This section displays the distribution of mutated samples and tissue types (top 5).

Accoiciated drug