NM_005228.5:c.2573T>G - CAGS

NM_005228.5:c.2573T>G

HGVS Expressions

NG_007726.3:g.177791T>G
NM_005228.5:c.2573T>G
NP_005219.2:p.Leu858Arg

Associated Genes

Epidermal Growth Factor Receptor

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Genomic Location

chr7:55191822

Clinvar Clinical Significance

Drug Response, Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
211980.1	Lebanon			Likely Pathogenic, Pathogenic	Lung Cancer	Fakhruddin et al, 2014	Only one case of EGFR substitution was r...
211980.G.1	Arab	7		Likely Pathogenic	Lung Cancer	Tfayli et al. 2017	From a study of 210 patients with lung a...
211980.G.5	Arab			Likely Pathogenic	Lung Cancer	Tfayli et al. 2017	7 individuals out of 205 lung adenocarci...

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Contributors

Pratibha Nair: 05.05.2020

Edit History

Sayeeda Hana: 22.03.2021
Asha Deepthi: 02.07.2020
Pratibha Nair: 05.05.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.