Variant #0000001271 (NC_000007.14:g.55173945G>A, NM_005228.4:c.2086G>A (EGFR))

Individual ID 00000255
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.55173945G>A
Published as G696R
Reference Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)
DB-ID EGFR_000002
dbSNP ID rs879254178
Frequency 1
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-14 11:29:05 +08:00 (CST)
Date last edited 2021-09-08 15:54:37 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
EGFR NM_005228.4 +/. - c.2086G>A - r.(?) p.(Gly696Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000270 DNA IHC;SEQ-NG EGFR 1 Nuur Athirah Binti Mohd Daud