All variants in the EGFR gene

Information The variants shown are described using the NM_005228.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 11 c.1283G>A r.(?) p.(Gly428Asp) - pathogenic g.55225431G>A g.55157738G>A - - EGFR_000001 not reported in any controls in ESP5400 PubMed: Ganetzky 2015 - - Germline yes - - 0 - Rebecca Ganetzky
+/. - c.1283G>A r.(?) p.(Gly428Asp) - pathogenic (recessive) g.55225431G>A g.55157738G>A - - EGFR_000001 - PubMed: Campbell 2014 - - Germline - - - 0 - Johan den Dunnen
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