Variant #0000009668 (NC_000007.14:g.55165397G>A, EGFR(NM_005228.4):c.1840G>A)

Individual ID 00002470
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.55165397G>A
Reference -
DB-ID EGFR_000005
dbSNP ID rs779076899
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yolanda Isabel Medina - Hospital Juan D. Perón
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
EGFR NM_005228.4 ?/? 15 c.1840G>A (p.Gly614Ser) Hetero no r.(1840g>a) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002761 DNA SEQ-NG INVITAE Invitae Multi-Cancer Panel (84 genes) 15-6-2022 Multigenetic panel - 1 Yolanda Isabel Medina - Hospital Juan D. Perón